Overview

This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome.

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Author:   Nima Rezaei
Publisher:   Springer Nature Switzerland AG
Imprint:   Springer Nature Switzerland AG
Edition:   1st ed. 2024
ISBN:  

9783030383800

ISBN 10:   3030383806
Pages:   8970
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Mixed media product
Publisher's Status:   Forthcoming
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Table of Contents

Genetics Chromosomal defects Single gene mutations Autosomal dominant Autosomal recessive X-linked inheritance Y-linked Mitochondrial Genomic imprinting Multifactorial Epigenetics DNA methylation Histone acetylation Environmental Infections Toxins Medications and Drugs Radiation Nutritional insufficiency Section 2: Congenital Syndromes classification: system Specific Normal feature syndromes Chromosome XXX syndrome (super female) de la Chapelle syndrome (XX male syndrome) Auditory Auricular syndromes Velocardiofacial Syndrome Auricular-Auditory-Ophthalmic-Musculoskeletal syndromes Hemifacial microsomia Cardiovascular syndromes Brugada syndrome Long QT syndrome (LQTS) Taussig-Bing syndrome Cardiovascular-Gastrointestinal-Pulmonary syndromes< Heterotaxia syndrome Cardiovascular-Gastrointestinal-Renal syndromes Alagille syndrome (Watson-Miller syndrome) (ICD-10: Q44.7) Cardiovascular-Cutaneous-Musculoskeletal syndromes Arterial tortuosity syndrome Cardiovascular-Cutaneous-Ophthalmic-Pulmonary-Urogenital syndromes LEOPARD syndrome Cardiovascular-Craniofacial syndromes Aortic arch anomaly-peculiar facies-mental retardation syndrome Asymmetric crying facies (ACF) (Cayler cardiofacial syndrome, partial unilateral facial paresis) Cardiofacial syndrome (Cayler syndrome) Conotruncal anomaly face syndrome (CTAF) Cardiovascular-Endocrine-Neurologic syndromes Malouf syndrome Cardiovascular-Hematologic-Neurologic syndromes Skeletal and cardiac malformations-thrombocytopenia syndrome Cardiovascular-Neurologic syndromes Erondu-Cymet syndrome Microcephaly-cardiomyopathy syndrome Cardiovascular-Sensorineural syndromes Jervell and Lange-Nielsen syndrome (JLNS) Craniofacial syndromes Ablepharon macrostomia syndrome Hall syndrome 1 Hughes syndrome (Acromegaloid facial appearance (AFA) syndrome) Keppen-Lubinsky syndrome Opitz trigonocephaly syndrome (C syndrome)< Pierre Robin syndrome (PRS) Raine syndrome (RNS) (osteosclerotic bone dysplasia) Craniofacial-Auricular-Auditory syndromes Abruzzo-Erickson syndrome Pierre Robin sequence (Weissenbacher-Zweymuller syndrome (WZS)) Craniofacial-Auriculoocularar syndromes Branchio-oculo-facial (BOF) syndrome (BOFS) Berry syndrome (mandibulofacial dysostosis (MFD)) Craniofacial-Cardiovascular syndromes Ritscher-Schinzel syndrome Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic syndromes Chromosome 9p deletion syndrome Congenital hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Kabuki make-up syndrome (KMS) (Niikawa-Kuroki syndrome) Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic-Urogenital syndromes Chromosome 14 trisomy syndrome Craniofacial-Cardiovascular-Cutaneous-Neurologic syndromes Golabi-Ito-Hall syndrome Craniofacial-Cardiovascular-Gastrointestinal-Neurologic-Renal syndromes German syndrome (fetal trimethadione syndrome) Craniofacial-Cardiovascular-Musculoskeletal syndromes Chromosome 5q duplication syndrome Chromosome 6q deletion syndrome Chromosome 12q duplication syndrome Chromosome 12q duplication syndrome Chromosome 15 trisomy Ho-Kaufman-Mcalister syndrome Osteopathia striata with cranial sclerosis (Fairbank disease, Voorhoeve syndrome) Sonoda syndrome Craniofacial-Cardiovascular-Musculoskeletal-Neurologic syndromes Chromosome 8q deletion syndrome Chromosome 9 trisomy syndrome Chromosome 9q duplication syndrome Chromosome 10q deletion syndrome Chromosome 17p deletion syndrome Chromosome 22 trisomy syndrome Fetal hydantoin syndrome (FHS) Hamel syndrome Hunter-Fraser syndrome Neurofaciodigitorenal (NFDR) syndrome Noonan syndrome (Turner-like syndrome) Pilotto syndrome Shprintzen syndrome Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Gastrointestinal syndromes Chromosome 11q duplication syndrome (Jacobsen Syndrome) Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Ocular syndromes Chromosome 10p duplication syndrome Ter Haar syndrome Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Pulmonary-Renal syndromes Chromosome 10q duplication syndrome Chromosome 20p deletion syndrome Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Renal syndromes Chromosome 5p duplication syndrome Chromosome 15q tetrasomy syndrome Chromosome 19p duplication syndrome Chromosome tetraploidy syndrome Eastman-Bixler syndrome (Faciocardiorenal syndrome) Craniofacial-Cardiovascular- Musculoskeletal-Neurologic- Urogenital syndromes Chromosome 2q duplication syndrome Chromosome 3q duplication syndrome Chromosome 4q deletion syndrome Chromosome 7p deletion syndrome Chromosome 9p tetrasomy syndrome Chromosome 10 ring syndrome Chromosome 10p duplication/10q deletion syndrome Chromosome 14q duplication syndrome Chromosome 21 monosomy syndrome Harrod syndrome Craniofacial-Cardiovascular-Musculoskeletal-Urogenital syndromes Chromosome 2 trisomy syndrome Craniofacial- Cardiovascular-Neurologic syndromes Cardiofaciocutaneous (CFC) syndrome Chromosome 8p deletion syndrome Chromosome 18q duplication syndrome Chromosome 20q duplication syndrome Williams syndrome (WMS, WS) (Beuren syndrome, Fanconi-Schlesinger syndrome) Craniofacial- Cardiovascular-Neurologic-Auditory syndromes Chromosome 6p deletion syndrome Craniofacial- Cardiovascular-Neurologic-Gastrointestinal syndromes Chromosome 9q duplication/Chromosome 9p deletion syndrome Craniofacial- Cardiovascular-Neurologic-Gastrointestinal-Renal syndromes Chromosome 18 trisomy (Edwards syndrome) Craniofacial- Cardiovascular-Neurologic-Hematologic syndromes Chromosome 8p deletion syndrome Craniofacial- Cardiovascular-Neurologic-Hematologic-Pulmonary syndromes Chromosome 21 trisomy syndrome Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-Ophthalmic-Urogenital syndromes Chromosome 4q duplication syndrome Chromosome 7q duplication syndrome Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-auriculoocular-Urogenital syndromes Chromosome 8 recombinant syndrome Craniofacial-Cardiovascular-Neurologic-Renal syndromes Chromosome 4p deletion syndrome (Wolf-Hirschhorn syndrome (WHS)) Craniofacial-Cardiovascular-Neurologic-Ophthalmic-Urogenital-Auditory Syndromes CHARGE (coloboma-heart disease-atresia of choanae-retarded mental development and growth-genital hypoplasia-ear abnormalities-deafness) association or syndrome Craniofacial-Cardiovascular-Neurologic-Urogenital syndromes Chromosome 13 trisomy syndrome (Bartholin-Patau syndrome) Craniofacial-Cardiovascular-Renal-Urogenital syndromes Potocki-Shaffer syndrome (PSS) Craniofacial-Cutaneous-Endocrine-Ophthalmic syndromes FACES syndrome Craniofacial-Cutaneous-Gastrointestinalsyndromes Laband syndrome Craniofacial-Cutaneous-Musculoskeletal syndromes Circumferential skin creases-psychomotor retardation syndrome Cranio-lenticulo-sutural dysplasia (Boyadjiev-Jabs syndrome) Zori-Stalker-Williams syndrome Craniofacial-Cutaneous-Musculoskeletal-Urogenital syndromes Dubowitz syndrome Craniofacial-Cutaneous-Musculoskeletal-Neurologic syndromes Coffin-Lowry syndrome (CLS) ( Coffin syndrome 2) Craniofrontonasal syndrome (CNFS) Craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome Hirsutism-skeletal dysplasia-mental retardation syndrome Hypertrichosis-coarse face-brachydactyly-obesity-mental retardation syndrome Lenz-Majewski-like syndrome (craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome) Lison syndrome Macrocephaly-capillary malformation (M-CM) Pollitt syndrome Craniofacial-Cutaneous-Musculoskeletal-Neurologic-Ophthalmic syndromes Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctate) Craniofacial-Cutaneous-Neurologic syndromes Chromosome 8p duplication syndrome Chromosome 17 ring syndrome Growth retardation-ocular abnormalities-microcephaly-brachydactyly-oligophrenia (GOMBO) syndrome SCARF (skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities) syndrome Trichodental dysplasia-microcephaly-mental retardation syndrome Craniofacial-Cutaneous-Neurologic-Renal syndromes Say syndrome 1 Craniofacial-Cutaneous-Neurologic-Musculoskeletal-Urogenital syndromes Chromosome 4 ring syndrome Craniofacial-Musculoskeletal syndromes Acro-dermato-ungual-lacrimal-tooth syndrome Adams-Oliver syndrome Abducted thumbs syndrome (Christian syndrome 1) Adducted thumb syndrome (Gareis-Mason syndrome) Antley-Bixler syndrome Apert syndrome Aspartylglycosaminuria Baller-Gerold syndrome (BGS) Carpenter syndrome Catel-Manzke syndrome Chromosome 17q deletion syndrome Escobar syndrome (Multiple pterygium syndrome) Fairbank-Keats syndrome (osteoglophonic dysplasia) Fanconi syndrome (SPONASTRIME (SPOndylar changes-NAsal anomaly-STRIated-MEtaphyses)) Fetal valproate syndrome (FVS) Freeman-Sheldon syndrome (FSS) (Windmill-Vane-Hand syndrome) Geleophysic dysplasia Hurst syndrome Jackson-Weiss syndrome (JWS) Microdontia-microcephaly-short stature syndrome Nager syndrome Orofaciodigital (OFD) syndrome V (Thurston syndrome) Orofaciodigital (OFD) syndrome X Orofaciodigital (OFD) syndrome XI Otopalatodigital (OPD) syndrome II Pfeiffer syndrome 1 Rapadilino syndrome Saethre-Chotzen syndrome (SCS) Scott syndrome Simpson-Golabi-Behmel (SGB) syndrome (SGBS) (Bulldog syndrome) Snyder-Robinson syndrome (SRS) Taybi syndrome (otopalatodigital (OPD) syndrome I) Weaver syndrome Craniofacial-Musculoskeletal-Endocrine syndromes Chromosome 9p duplication syndrome Chromosome 10p deletion syndrome Craniofacial-Musculoskeletal-Endocrine-Hematologic syndromes Van Goethem Syndrome Craniofacial-Musculoskeletal-Neurologic syndromes Chromosome 2p deletion syndrome Chromosome 2q deletion syndrome Chromosome 3p deletion syndrome Chromosome 7q deletion syndrome Chromosome 8p inverted duplication syndrome Chromosome 8q duplication syndrome Chromosome 12 ring syndrome Chromosome 12p duplication syndrome Chromosome 14 ring syndrome Chromosome 14q deletion syndrome Chromosome 17p duplication syndrome Chromosome 18 ring syndrome Chromosome 18p deletion syndrome Chromosome 21q deletion syndrome Chromosome 22 monosomy syndrome Chromosome diploid/triploid mixoploidy syndrome Chromosome XXXXX syndrome (chromosome X pentasomy) Costello syndrome Edinburgh malformation syndrome Facial dysmorphia-hyperextensibility of joints-clinodactyly-growth retardation-mental retardation syndrome Fetal aminopterin syndrome Fetal aminopterin-like syndrome Filippi syndrome Floating-Harbor syndrome (FHS) (Pelletier-Leisti syndrome) Fontaine syndrome (ectrodactyly-mandibulo-facial dysostosis syndrome) Hall-Riggs syndrome KBG syndrome Kelly syndrome (microcephaly-digital anomalies syndrome) Lateral meningocele syndrome Lenz-Majewski syndrome Macrocephaly-facial abnormalities-disproportionate tall stature-mental retardation syndrome Marden-Walker syndrome (MWS) Mercaptolactate-cysteine disulfiduria (MCDU) Microcephaly-mild developmental delay-short stature-distinctive face syndrome Microcephaly-mild mental retardation-short stature-skeletal anomalies syndrome Oculo-auriculovertebral (OAV) dysplasia (Franceschetti-Goldenhar syndrome, Goldenhar syndrome (GS)) Orofaciodigital (OFD) syndrome VI (Juberg-Hayward syndrome, Varadi-Papp syndrome) Orofaciodigital (OFD) syndrome I (Gorlin syndrome 1, Papillon-Leage and Psaume syndrome) Orofaciodigital (OFD) syndrome II (Mohr syndrome) Pfeiffer syndrome 2 Pfeiffer syndrome 3 Pitt-Rogers-Danks syndrome (PRDS) Pterygium colli-mental retardation-digital anomalies syndrome Radial ray defects-triangular face-telecanthus-sparse hair-dwarfism-mental retardation syndrome Roberts syndrome (RS) (Appelt-Gerken-Lenz syndrome) Sao Paulo MCA/MR syndrome Say-Meyer syndrome SC phocomelia syndrome Smith-Fineman-Myers syndrome (SFMS) Sotos syndrome (Nevo syndrome) Shprintzen-Goldberg syndrome Spinal muscular atrophy-microcephaly-mental retardation syndrome Spondylometa-epiphyseal dysplasia-extreme short stature syndrome Spondylometaphyseal dysplasia, X-linked Teebi syndrome Toriello syndrome II Weaver-Williams syndrome Wiedemann-Rautenstrauch (WR) syndrome Wisconsin syndrome Woods syndrome Zerres syndrome Craniofacial-Musculoskeletal-Neurologic-Auditory syndromes Fountain syndrome Craniofacial-Musculoskeletal-Neurologic-Auriculoocular syndromes Genee-Wiedemann syndrome Craniofacial-Musculoskeletal-Neurologic-Endocrine syndromes Chromosome Xq deletion syndrome Chudley syndrome 1 Chudley syndrome 2 Johanson-Blizzard syndrome (JBS) Obesity-short stature-mental deficiency-hypogonadism-micropenis-finger contractures-cleft lip-palate syndrome Craniofacial-Musculoskeletal-Neurologic-Gastrointestinal syndromes Opitz-Kaveggia syndrome (Keller syndrome) Craniofacial- Musculoskeletal-Neurologic- Hematologic syndromes Cohen syndrome (Norio syndrome, Pepper syndrome) Craniofacial- Musculoskeletal-Neurologic- Ophthalmic syndromes Chromosome 8 trisomy syndrome Craniofacial dysmorphism-absent corpus callosum-iris colobomas-connective tissue dysplasia syndrome Fetal anticoagulant syndrome (DiSala syndrome) Hallermann-Streiff syndrome (HSS) (Francois dyscephalia) Orofaciodigital (OFD) syndrome VIII Orofaciodigital (OFD) syndrome IX Pseudoprogeria/Hallermann-Streiff syndrome (PHS) Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome syndactyly-cataracts-mental retardation syndrome Craniofacial- Musculoskeletal-Neurologic- Ophthalmic-Gastrointestinal syndromes Curry-Jones syndrome Craniofacial- Musculoskeletal-Neurologic- Pulmonary syndromes Craniofacial-Musculoskeletal-Neurologic-Renal syndromes Distal limb deficiency-mental retardation syndrome Craniofacial-Musculoskeletal-Neurologic-Renal-Urogenital syndromes Malpuech syndrome Craniofacial- Musculoskeletal-Neurologic-Urogenital syndromes Caudal appendage-short terminal phalanges-deafness-cryptorchidism-mental retardaion syndrome Chromosome 2p duplication syndrome Chromosome 15 ring syndrome Chromosome 21q tetrasomy syndrome Chromosome triploidy syndrome Chromosome X inversion syndrome Malpuech syndrome Rudiger syndrome Ruvalcaba syndrome Wittwer syndrome Craniofacial-Musculoskeletal- Ophthalmic syndromes Miller syndrome (Genee-Wiedemann syndrome) Orofaciodigital (OFD) syndrome III (Sugarman syndrome) Craniofacial-Musculoskeletal- Ophthalmic-Gastrointestinal syndromes Idaho syndrome Craniofacial-Musculoskeletal-Pulmonary syndromes Fryns syndrome 3 Pointer syndrome Craniofacial-Musculoskeletal-Pulmonary-Auditory syndromes Keutel syndrome 1 Craniofacial-Musculoskeletal-Pulmonary-Urogenital syndromes Calabro syndrome Craniofacial-Musculoskeletal-Renal syndromes Galloway Mowat syndrome Craniofacial-Musculoskeletal-Renal-Urogenital syndromes Chromosome 18p tetrasomy syndrome Craniofacial-Musculoskeletal-Urogenital syndromes Michelin tire baby syndrome Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (Rudiger syndrome 1) Genitopatellar syndrome Popliteal pterygium syndrome (PPS) Craniofacial-Neurologic syndromes Arrhinia-choanal atresia-microphthalmia syndrome Bangstad syndrome Brooks syndrome Cerebro-oculo-nasal syndrome Chromosome 5p tetrasomy syndrome Chromosome 6 ring syndrome Chromosome 6q duplication syndrome Chromosome 7 ring syndrome Chromosome 11q deletion syndrome Chromosome 12p deletion syndrome Chromosome 12p tetrasomy syndrome (Pallister-Killian syndrome) Chromosome 13q duplication syndrome Chromosome 15q deletion syndrome Chromosome 16q deletion syndrome Chromosome 18q deletion syndrome Chromosome 19q duplication syndrome Chromosome 22q deletion syndrome Cleft palate-lateral synechiae (CPLS) syndrome Fetal alcohol syndrome (FAS) Fetal isotretinoin syndrome Gangliosidosis GM1, type I (Caffey pseudo-Hurler syndrome) Gangliosidosis GM1, type III Hyde-Forster syndrome Jugular foramen syndrome (Vernet's syndrome) Kaufman oculocerebrofacial syndrome Mickleson syndrome Pitt-Hopkins syndrome Pseudotoxoplasmosis syndrome Skeletal dysplasia-joint laxity-mental retardation syndrome Smith-Magenis Syndrome (SMS) Toriello-Carey syndrome Craniofacial-Neurologic-Auditory syndromes Microcephaly-deafness syndrome Craniofacial-Neurologic-Auriculoocular syndromes Chromosome 3q deletion syndrome Craniofacial-Neurologic-Endocrine syndromes Fryns syndrome (2) Microcephaly-hypergonadotropic hypogonadism-short stature syndrome Ramon syndrome Craniofacial-Neurologic-Gastrointestinal syndromes Zimmermann-Laband syndrome (ZLS) Craniofacial-Neurologic-Immunologic syndromes Rambam-Hasharon syndrome Craniofacial-Neurologic-Ophthalmic syndrome Cianchetti syndrome Cranio-oculofrontonasal malformation Craniofacial-Neurologic-Ophthalmic-Auditory syndromes Fine-Lubinsky syndrome Craniofacial-Neurologic-Ophthalmic-Immunologic syndromes Toriello syndrome I Craniofacial-Neurologic-Renal syndrome Chromosome 16p duplication syndrome Craniofacial-Neurologic-Sensorineural-Urologic syndromes Juberg-Marsidi syndrome (JMS) Craniofacial-Neurologic-Urogenital syndromes Chromosome 3p duplication syndrome Chromosome 7p duplication syndrome Chromosome X fragility syndrome (Escalante syndrome, Martin-Bell syndrome (MBS), Renpenning syndrome 2) MacDermot-Winter syndrome Craniofacial-Ophthalmic syndromes Crouzon syndrome Craniofacial-Ophthalmic-Renal syndromes Regenbogen-Donnai syndrome (Facio-oculo-acoustico-renal (FOAR) syndrome) Craniofacial-Ocular-Urogenital Chromosome 22q duplication syndrome Craniofacial-Urogenital syndromes Cutaneous syndromes Bazex syndrome Buschke-Ollendorff syndrome (Dermatofibrosis lenticularis disseminate) Hay-Wells syndrome Nakajo syndrome Naegeli-Franceschetti-Jadassohn syndrome (NFJS) Netherton syndrome Papillon-Lefevre syndrome (PLS) (palmoplantar keratoderma with periodontitis) Restrictive dermopathy (RD) (tight skin contracture syndrome) Rombo syndrome Senter syndrome Setleis syndrome Cutaneous-Craniofacial-Musculoskeletal syndromes Sensenbrenner syndrome (Levin syndrome I) Cutaneous-Craniofacial-Meusuloskeletal-Neurologic syndromes Ectodermal dysplasia-cleft lip and palate-mental retardation syndactyly syndrome II wrinkly skin syndrome (WSS) Cutaneous-Craniofacial-Meusuloskeletal-Neurologic-Urogenital syndromes Gomez and Lopez-Hernandez syndrome Cutaneous-Craniofacial-Neurologic syndromes Ichthyosis-characteristic appearance-mental retardation syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Odontoonychodermal dysplasia (Fadhil syndrome) Cutaneous-Craniofacial-Urogenital syndromes Rosselli-Gulienetti syndrome (Zlotogora-Ogur syndrome, Bowen-Armstrong syndrome) Cutaneous-Dental syndromes Lelis syndrome Cutaneous-Gastrointestinal-sensorineural syndromes ABCD syndrome Cutaneous-Gastrointestinal-Musculoskeletal syndromes Dermotrichic syndrome Cutaneous-Musculoskeletal syndromes Austin syndrome Developmental delay-multiple strawberry nevi syndrome Gorlin-Goltz syndrome (Gorlin syndrome 2, nevoid basal-cell carcinoma (NBCC) syndrome (NBCCS, NBS)) PAPA syndrome Proteus syndrome (PS) (Wiedemann syndrome 2) Cutaneous-Musculoskeletal-Neurologic syndromes Ectodermal dysplasia-mental retardation-syndactyly syndrome Hereditary bullous dystrophy Ichthyosis follicularis-atrichia (or alopecia)-photophobia (IFAP) syndrome Nail-patella syndrome (NPS) Sjoegren-Larsson syndrome (SLS) Skin mastocytosis-hearing loss-mental retardation syndrome Cutaneous-Musculoskeletal-Neurologic-Ophthalmic syndromes Cockayne syndrome (CS) 1 Cutaneous-Musculoskeletal-Neurologic-Renal syndromes Ichthyosis-mental retardation-dwarfism-renal impairment syndrome Ichthyosis-split hair-aminoaciduria syndrome Cutaneous-Musculoskeletal- Ophthalmic syndromes EEM syndrome (Ectodermal dysplasia-Ectrodactyly-Macular dystrophy syndrome) Cutaneous-sensorineural-urogenital syndromes Johnson-McMillin syndrome Cutaneous-Neurologic syndromes Beare syndrome Bloch-Sulzberger syndrome Brittle hair-mental deficit syndrome (Sabinas syndrome) Gingival fibromatosis-hypertrichosis-epilepsy-mental retardation syndrome Ito hypomelanosis (Ito syndrome) Late-onset local junctional epidermolysis bullosa-mental retardation syndrome Legius syndrome (LS) (Neurofibromatosis Type 1-like syndrome (NFLS)) Neurofibromatosis type I Tay syndrome Cutaneous-Neurologic-Endocrine syndromes Rud syndrome Cutaneous-Neurologic-Ophthalmic syndromes Cross syndrome (Kramer syndrome) Desmons syndrome Ichthyosis-alopecia-ectropion-mental retardation syndrome Microphthalmia-dermal aplasia-sclerocornea (MIDAS) syndrome Cutaneous-Neurologic-Ophthalmic-Hematologic syndromes Richner-Hanhart syndrome Cutaneous-ophthalmic syndromes Rothmund-Thomson syndrome (RTS) Xeroderma pigmentosum Cutaneous-Neurologic-Urogenital syndromes Amish brittle hair syndrome (Trichothiodystrophy (TTD), BIDS syndrome) Endocrine syndromes Albright syndrome 1 Androgen insensitivity syndrome Apparent mineralocorticoid excess syndrome Aromatase excess syndrome Del Castillo syndrome (Sertoli cell-only syndrome) Estrogen insensitivity syndrome Follicle-stimulating hormone (FSH) insensitivity (ovarian follicle hypoplasia) Gonadotropin-releasing hormone (GnRH) insensitivity Kallmann syndrome 3 (de Morsier syndrome) Perrault syndrome Swyer syndrome (XY gonadal dysgenesis) Werner syndrome (WS) Endocrine-Auditory syndromes Pendred syndrome Endocrine-Cardiovascular-Craniofacial-Neurologic syndromes Young-Simpson syndrome (YSS) Endocrine-Cardiovascular-Musculoskeletal-Neurologic syndromes Gonadal failure-short stature-mitral valve prolapse-mental retardation syndrome Endocrine-Craniofacial-Cutaneous syndromes Rabson-Mendenhall syndrome Endocrine-Craniofacial-Musculoskeletal syndromes Pallister-Hall syndrome (Hall syndrome 2) Endocrine-Craniofacial- Neurologic syndromes Diabetes mellitus-mental retardation-lipodystrophy-dysmorphic traits syndrome Laron's syndrome X-linked mental retardation-growth hormone deficiency syndrome Endocrine-Craniofacial-Ophthalmic syndromes MOMO syndrome Endocrine-Craniofacial-Urogenital syndromes Donohue syndrome (Leprechaunism) Endocrine-Gastrointestinal-Ophthalmic syndromes Triple-A syndrome (AAA) (Achalasia-Addisonianism-Alacrima syndrome, Allgrove syndrome) Endocrine-Hematologic-Gastrointestinal-Neurologic syndrome Crigler-Najjar syndrome Endocrine-Hematologic-Neurologic syndromes Denys-Drash syndrome Endocrine-Musculoskeletal syndromes Jansen's metaphyseal chondrodysplasia (JMC) Kenny-Caffey syndrome (KCS) Wolcott-Rallison syndrome Endocrine-Musculoskeletal-Urogenital-Cutaneous syndromes Berardinelli-Seip syndrome (Miescher syndrome 2) Endocrine-Neurologic syndromes Hypoparathyroidism-stature-mental retardation-seizures syndrome Lesch-Nyhan syndrome (LNS) Endocrine-Neurologic-Cutaneous syndromes Addison-Schilder syndrome (Siemerling-Creutzfeldt syndrome, Fanconi-Prader syndrome) Akesson syndrome Feingold-Schilder syndrome Hypogonadism-alopecia-diabetes mellitus-mental retardation-deafness-ECG abnormalities syndrome Familial endocrine-neuroectodermal abnormalities syndrome Woodhouse-Sakati syndrome Endocrine-Neurologic-Musculoskeletal syndromes Agonadism-mental retardation-short stature-retarded bone age syndrome Brissaud syndrome 1 Chromosome Xp22 deletion syndrome Chromosome XXY syndrome (Klinefelter syndrome (KS)) Chromosome XXXXY syndrome (Klinefelter variant) Endocrine-Neurologic-Musculoskeletal-Ophthalmic syndromes Macrosomia-obesity-macrocephaly-ocular abnormality (MOMO) syndrome Endocrine-Neurologic-Ophthalmic syndromes Hypogonadotropic hypogonadism-mental retardation-microphthalmia syndrome Pigmentary retinopathy-hypogonadism-mental retardation-nerve deafness-glucose intolerance syndrome Endocrine-Neurologic-Renal syndromes Barakat syndrome Endocrine-Ophthalmic-Auditory syndromes Tietz albinism-deafness syndrome (Tietz syndrome) Wolfram syndrome Endocrine-Pulmonary syndrome ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) Endocrine-Renal Syndromes Liddle syndrome Endocrine-Urogenital syndromes Leydig cell hypoplasia (Leydig cell agenesis) Persistent Mullerian duct syndrome (PMDS) Gastrointestinal syndromes Dubin-Johnson syndrome Gilbert's syndrome (GS) Lucey-Driscoll syndrome Peutz-Jeghers syndrome Prune belly syndrome (PBS) Menkes syndrome Rotor syndrome Gastrointestinal-Musculoskeletal-Auditory syndromes Townes-Brocks syndrome (TBS) (REAR syndrome) Gastrointestinal-Craniofacial-Renal syndromes Hardikar syndrome Gastrointestinal-Craniofacial-Neurologic syndromes Mowat-Wilson syndrome (Hischsprung disease-microcephaly-mental retardation-characteristic facies syndrome) Gastrointestinal-Endocrine-Renal syndromes Beckwith-Wiedemann syndrome (BW, BWS) Gastrointestinal-Hematologic-Neurologic syndromes Anderson syndrome Gastrointestinal-Neurologic syndromes Mungan syndrome Sandifer syndrome Gastrointestinal-Craniofacial-Neurologic-Auditory syndromes Johanson-Blizzard syndrome (JBS) Gastrointestinal-Craniofacial-Musculoskeletal-Neurologic-Urogenital syndromes< Hennekam syndrome Hematologic and neoplastic syndromes Bloom syndrome Gardner syndrome Gray platelet syndrome (GPS) (platelet alpha-granule deficiency) Kostmann syndrome Li-Fraumeni syndrome Lynch syndrome (HNPCC) Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) Pacak-Zhuang syndrome Twin-to-twin transfusion syndrome (TTTS) Twin Anemia-Polycythemia Sequence Hematologic-Craniofacial-Neurologic syndromes Congenital Thrombocytopenia-Robin sequence-agenesis of corpus callosum-distinctive facies-developmental delay syndrome Hematologic-Cutaneous syndromes Kasabach-Merritt syndrome (KMS) Zinsser-Engman-Cole syndrome Hematologic-Endocrine-Gastrointestinal syndromes Pearson syndrome Hematologic-Gastrointestinal syndromes Berdon syndrome Hematologic-musculoskeletal syndromes Aase syndrome OSLAM syndrome Hematologic-Musculoskeletal-Ophthalmic syndromes Osteosarcoma-cataracts-diabetes mellitus-osteoporosis-erythroid macrocytosis-growth and developmental deficiency syndrome Hematologic-Musculoskeletal-Neurologic syndrome Myopathy-lactic acidosis-sideroblastic anemia syndrome Phosphoglycerate kinase (PGK) deficiency Hematologic-Neurologic syndromes Alpha-thalassemia/mental retardation syndrome, nondeletion type (ATR2, ATR, nondeletion) Arakawa syndrome 2 Benjamin syndrome Hb H disease-mental retardation syndrome (Alpha-thalassemia/mental retardation syndrome, deletion type (ATR, deletion. ATR1, ATR-16))< Neuroblastoma-multiple congenital anomalies-mental retardation syndrome Hematologic-Sensorineural syndromes Fechtner syndrome Immunologic syndromes MonoMAC syndrome Nezelof syndrome Omenn syndrome Immunologic-Cardiovascular-Craniofacial-Endocrine syndromes DiGeorge syndrome (DGS) Immunologic-Craniofacial syndromes ICF syndrome (Immunodeficiency-Centromere instability-Facial anomalies syndrome) Immunologic-Craniofacial-Neurologic syndromes Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome Immunologic-Craniofacial- Cutaneous-Neurologic-Ophthalmic syndromes Vici syndrome Immunologic-Cutaneous Syndromes Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome Griscelli syndrome Hyperimmunoglobulinemia E syndrome WHIM Syndrome (Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) Immunologic-Cutaneous-Hematologic Syndromes TEMPI Syndrome Immunologic-Cutaneous-Neurologic Syndromes Ataxia telangiectasia variant 1 (AT-V1) (Berlin breakage syndrome) Chediak-Higashi syndrome Musculoskeletal syndromes Achard syndrome Acropectoral syndrome Arthrogryposis multiplex congenita (AMC) Currarino syndrome Pseudohypertrophic progressive muscular dystrophy (Becker dystrophy, Duchenne syndrome) Desbuquois syndrome Guerin-Stern syndrome Ionasescu syndrome (Charcot-Marie syndrome, X-linked recessive, Type II) Klippel-Feil syndrome Lethal congenital contracture syndrome 1 (LCCS1) Liebenberg Syndrome Limb-girdle muscular dystrophy (LGMD) Marie-Sainton syndrome (Cleidocranial dysplasia (CCD, CLCD)) Osteodysplastic primordial dwarfism Poland syndrome Spondylometaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloperipheral dysplasia Tetra-amelia syndrome Thanatophoric dysplasia (TD) Wallis-Zieff-Goldblatt syndrome (Cleidorhizomelic syndrome) Worth syndrome X-linked myotubular myopathy (XLMTM, MTMX) (centronuclear myopathy (CNM)) Musculoskeletal-Auditory syndrome Dystonia-deafness syndrome Musculoskeletal-Cardiovascular syndromes Ehlers-Danlos syndrome (EDS) Holt-Oram syndrome Larsen syndrome (LS) Musculoskeletal-Cardiovascular-Gastrointestinal syndromes Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome ( Feingold syndrome) Musculoskeletal-Cardiovascular-Ophthalmic syndromes Frank ter Haar-syndrome< Musculoskeletal-Cardiovascular-Pulmonary syndromes Yunis-Varon syndrome (YVS) Musculokeletal-Craniofacial syndromes Greig cephalopolysyndactyly (GCPS) syndrome (Greig syndrome, Hootnick-Holmes syndrome) Hajdu-Cheney syndrome (HCS) (Cheney syndrome) Impossible Syndrome (Chondrodysplasia-situs inversus-imperforate anus-polydactyly) Multiple synostoses syndrome< Occipital horn syndrome (OHS) Orofaciodigital (OFD) syndrome IV (Baraitser-Burn syndrome) Musculoskeletal-Craniofacial-Auriculo ocular syndromes Berry-Treacher Collins syndrome Musculoskeletal-Cardiovascular-Neurologic-Urogenital syndromes Ellis-van Creveld (EvC) syndrome Chromosome XO syndrome (Turner syndrome (TS)) Chromosome Xq duplication syndrome Musculoskeletal-Cardiovascular-Craniofacial-Musculoskeletal-Endocrine syndromes McDonough syndrome Musculoskeletal-Craniofacial-Cardiovascular syndromes Bixler syndrome (Hypertelorism-microtia-clefting (HMC) syndrome) Brachydactyly-mesomelia-mental retardation-aortic dilation-mitral valve prolapse-characteristic facies syndrome Musculoskeletal-Craniofacial-Endocrine-Neurologic syndromes Mental retardation-facial anomalies-hypopituitarism-distal arthrogryposis syndrome Mental retardation-distal arthrogryposis syndrome Musculoskeletal-Craniofacial-Neurologic syndromes Kocher-Debre-Semelaigne (KDS) syndrome Musculoskeletal-Craniofacial-Neurologic-Ophthalmic syndromes Osteogenesis imperfecta-optic atrophy-retinopathy-developmental delay syndrome Musculoskeletal-Craniofacial-Neurologic-Ophthalmic-Auditory syndromes Nasodigitoacoustic syndrome Musculoskeletal-Craniofacial-Ophthalmic syndromes Weill-Marchesani syndrome 9Spherophakia-brachymorphia syndrome) Musculoskeletal-Craniofacial-Urogenital syndromes Aarskog-Scott syndrome (Greig syndrome) (ICD 10: Q87.1) Robinow syndrome (Mesomelic dwarfism-small genitalia syndrome) Musculoskeletal-Craniofacial-Cutaneous-Neurologic syndromes Trichorhinophalangeal (TRP) syndrome 2 (TRPS2) (Ale-Calo syndrome, Langer-Giedion syndrome) Arthrogryposis-ectodermal dysplasia-cleft lip/palate-developmental delay syndrome Musculoskeletal-Craniofacial-Neurologic-Pulmonary syndromes Rubinstein-Taybi syndrome (RSTS, RTS) Musculoskeletal-Craniofacial-Urologic syndromes< Schmitt Gillenwater Kelly syndrome Musculoskeletal-Cutaneous-Hematologic syndrome Maffucci syndrome Musculoskeletal-Cutaneous-Ophthalmic syndromes SHORT syndrome Musculoskeletal-Cutaneous-Urogenital syndromes Silver-Russell syndrome (SRS) Musculoskeletal-Gastrointestinal-Cardiovascular-Pulmonary-Renal syndromes VACTERL (vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb defects) association with hydrocephalus syndrome VATER (vertebral defects-anal atresia-tracheoesophageal fistula-esophageal atresia-radial and renal dysplasia) association or syndrome (Kaufman syndrome) Musculoskeletal-Gastrointestinal-Urogenital syndromes Johnson-Munson syndrome Musculoskeletal-Ophthalmic-Neurologic syndromes CAMFAK (cataract-microcephaly-failure to thrive-kyphoscoliosis) syndrome (Cockayne syndrome 2, Lowry syndrome 2) Schwartz-Jampel syndrome (SJS) (Aberfeld syndrome) Musculoskeletal-Neurologic syndromes Arkless-Graham syndrome (Acrodysostosis) Acrofacial dysostosis (ACD), Catania type Acrofrontofacionasal (AFFN) dysostosis syndrome 1 Charcot-Marie-Tooth disease (CMT) Erb-Charcot syndrome (spastic paraplegia (SP)) Hyperglycerolemia Hutterite cerebro-osteo-nephrodysplasia Jancar syndrome Keutel syndrome 2 Lujan-Fryns syndrome Marfanoid habitus-mental retardation syndrome Mixed sclerosing bone dysplasia-small stature-seizures-mental retardation syndrome Radio-ulnar synostosis-short stature-microcephaly-scoliosis-mental retardation syndrome Radioulnar synostosis-developmental retardation-hypotonia syndrome Short stature-microcephaly-syndactyly-dysmorphic face-mental retardation syndrome Spinal muscular atrophy-mental retardation syndrome Spondylo-epiphyseal dysplasia tarda-mental retardation syndrome Troyer syndrome (TS) Wieacker-Wolff syndrome Musculoskeletal-Neurologic-Cardiovascular-Ophthalmic syndromes Marfan syndrome (MFS) Musculoskeletal-Neurologic-Cardiovascular-Urogenital syndromes Smith-Lemli-Opitz (SLO) syndrome I (SLOS I) (RSH syndrome) Musculoskeletal-Neurologic-Cardiovascular-Renal syndromes Pretzel syndrome Musculoskeletal-Neurologic-Cutaneous syndromes Dubowitz syndrome 1 Fitzsimmons syndrome Growth retardation-small and puffy hands-eczema syndrome Grubben syndrome Patterson syndrome Ulnar hypoplasia-club feet-mental retardation syndrome Musculoskeletal-Neurologic-Cutaneous-Endocrine-Cardiovascular syndromes Jaffe-Campanacci syndrome Musculoskeletal-Neurologic-Cutaneou-Auditory syndromes Macrocephaly-hypertelorism-short limbs-hearing loss-developmental delay syndrome Musculoskeletal-Neurologic-Endocrine-Gastrointestinal syndromes Fryns syndrome Musculoskeletal-Neurologic-Gastrointestinal syndromes Jeune syndrome Musculoskeletal-Neurologic-Audiovisual syndromes Brachydactyly-dwarfism-hearing loss-microcephaly-mental retardation syndrome Musculoskeletal-Neurologic-Auditory syndromes Cowchock syndrome Musculoskeletal-Neurologic-Gastrointestinal-Ophthalmic syndromes Mulibrey (muscle-liver-brain-eye) nanism or dwarfism (Perheentupa syndrome) Musculoskeletal-Neurologic-Ophthalmic syndromes Bhaskar-Jagannathan syndrome Chondrodysplasia-pseudohermaphrodism syndrome Coffin syndrome 1 Microcephaly-muscular build-rhizomelia-cataracts syndrome Osteoporosis-pseudoglioma syndrome (OPS) Spastic quadriplegia-retinitis pigmentosa-mental retardation syndrome Musculoskeletal-Neurologic-Ophthalmic-Auditory syndromes Dislocated elbow-bowed tibiae-scoliosis-deafness-cataract-microcephaly-mental retardation syndrome Mohr-Tranebjaerg syndrome (MTS) Musculoskeletal-Neurologic-Pulmonary syndromes Marshall-Smith Syndrome Stuve-Wiedemann (SW) syndrome (SWS) Musculoskeletal-Neurologic- renal syndromes Eronen syndrome Marfanoid habitus-microcephaly-glomerulonephritis syndrome Musculoskeleal-Ophthalmic-Endocrine syndromes Chromosome Xp21 deletion syndrome Musculoskeletal-Ophthalmic-Renal syndromes Acroreno-ocular syndrome Musculoskeletal-Renal syndromes Exner syndrome (Serpentine fibula-polycystic kidney syndrome) Musculoskeletal-Auriculoocular syndromes Fine-Lubinsky syndrome Musculoskeletal-Urogenital syndromes Hand-foot-genital syndrome (HFGS) Musculoskeleta-Vascular-Cutaneous syndromes Klippel-Trenaunay-Weber (KTW) syndrome (Parkes Weber syndrome) Neurologic and mental syndromes< Agenesis of corpus callosum-mental retardation-osseous lesions syndrome Alexander syndrome Alzheimer syndrome Angelman syndrome (Happy puppet syndrome) Apak syndrome Arakawa syndrome I Arakawa's syndrome II Asperger syndrome Absence of septum pellucidum with porencephalia syndrome (SASPP) Andermann syndrome Apraxia-ataxia-mental deficiency syndrome Arts syndrome Ataxia-deafness-retardation (ADR) syndrome Atkin-Flaitz syndrome Benign familial macrocephaly (BFM) Berry-Kravis and Israel syndrome Brunner syndrome Cavum septum pellucidum-cavum vergae-macrocephaly-seizures-mental retardation syndrome Cerebro-oculo-muscular syndrome (COMS) Chromosome 5p deletion syndrome (cri du chat syndrome) Chromosome 15 inverted duplication< Chromosome 19 ring syndrome Chromosome 20 ring syndrome Chromosome 22 supernumerary marker Cocktail party syndrome Dandy-Walker syndrome (DWS) Dysequilibrium syndrome (DES) (Halpern syndrome) Einstein syndrome Fahr's syndrome (Idiopathic basal ganglia calcification) Familial striatal degeneration (infantile bilateral striatal necrosis (IBSN) syndrome) Fragile site mental retardation 2 (FMR2) Garcia-Lurie syndrome Gastaut-Geschwind syndromes Gerhardt syndrome (familial vocal cord dysfunction) Hydrocephalus-cerebellar agenesis syndrome Kifafa seizure disorder Krabbe disease (KD) 1 Lysine malabsorption syndrome Menkes-Kaplan syndrome Microcephaly-calcification of cerebral white matter syndrome Miller-Dieker syndrome (MDS) Neuronal ceroid lipofuscinosis (CLN) Norman-Roberts syndrome (NRS) Ohtahara syndrome (OS) Panayiotopoulos syndrome Pelizaeus-Merzbacher disease (PMD) Porencephaly-cerebellar hypoplasia-internal malformations syndrome Potocki-Lupski syndrome (PTLS) Pyruvate dehydrogenase complex (PDHC) deficiency Rett syndrome (RS, RTS) Riley-Day syndrome (Familial dysautonomia (FD), hereditary sensory and autonomic neuropathy type III (HSAN-III)) Salla disease Santavuori syndrome (muscle-eye-brain syndrome (MEBS)) Savant syndrome Schmidley syndrome (Schmid-Fraccaro syndrome) Seemanova syndrome 1 Tranebjaerg syndrome 2 Uner Tan syndrome Vasquez syndrome (X-linked mental retardation syndrome 6 (MRXS6)) Vles syndrome Waisman syndrome Walker-Warburg syndrome (WWS) (Chemke syndrome) West syndrome (WS) (Eclampsia nutans) Worster-Drought syndrome X-linked mental retardation 2 (MRX2, XLMR2) X-linked mental retardation 4 (MRX4, XLMR4) X-linked mental retardation 5 (MRX5, XLMR5) X-linked mental retardation 7 (MRX7, XLMR7) X-linked mental retardation 8 (MRX8, XLMR8) X-linked mental retardation 9 (MRX9, XLMR9) X-linked mental retardation 13 (MRX13, XLMR13) X-linked mental retardation 14 (MRX14, XLMR14) X-linked mental retardation 15 (MRX15, XLMR15) X-linked mental retardation 16 (MRX16, XLMR16) X-linked mental retardation 17 (MRX17, XLMR17) X-linked mental retardation 18 (MRX18, XLMR18) X-linked mental retardation 19 (MRX19, XLMR19) X-linked mental retardation 20 (MRX20, XLMR20) X-linked mental retardation 23 (MRX23, XLMR23) X-linked mental retardation 24 (MRX24, XLMR24) X-linked mental retardation (MRX25, XLMR25) X-linked mental retardation 26 (MRX26, XLMR26) X-linked mental retardation 27 (MRX27, XLMR27) X-linked mental retardation 29 (MRX29, XLMR29) X-linked mental retardation 30 (MRX30, XLMR30) X-linked mental retardation 31 (MRX31, XLMR31) X-linked mental retardation 32 (MRX32, XLMR32) X-linked mental retardation 34 (MRX34. XLMR34) X-linked mental retardation 38 (MRX38, XLMR38) X-linked mental retardation 39 (MRX39, XLMR39) X-linked mental retardation 41 (MRX41, XLMR41) X-linked mental retardation (MRX 47, XLMR 47) X-linked mental retardation-aphasia syndrome (MRXA) X-linked mental retardation-seizures-acquired micrencephaly-agenesis of corpus callosum syndrome X-linked mental retardation syndrome 5 (MRXS5) (Pettigrew syndrome (PGS)) Neurologic-Auditory syndromes Brown-Vialetto-Van Laere syndrome Neurologic-Cardiovascular-Endocrine syndromes Chromosome X;autosome translocation syndrome Neurologic-CardiovascularRenal syndromes Distal Trisomy 10q Neurologic-Cardiovascular-Urogenital Najjar syndrome Neurologic-cutaneous syndromes Abdallat-Davis-Farrage syndrome Aicardi-Goutieres syndrome (ICD-10: G31.8) Absent nails-kinesogenic choreoathetosis-epilepsy-developmental delay syndrome Alopecia-epilepsy-oligophrenia syndrome (Moynahan alopecia syndrome) Alopecia-mental retardation (AMR) syndrome Feuerstein-Mims syndrome (epidermal nevus syndrome (ENS)) Mental retardation-sparse hair syndrome Sturge-Weber syndrome (SWS) Tranebjaerg syndrome 1 (X-linked mental retardation-psoriasis syndrome) Neurologic-Cutaneous-Endocrine syndromes Hypohidrotic ectodermal dysplasia-hypothyroidism-agenesis of corpus callosum syndrome Obesity-mental retardation-delayed puberty-macroorchidism-acanthosis nigricans-hyperinsulinemia syndrome Neurologic-Cutaneous-Hematologic syndromes Tuberous sclerosis Neurologic-Cutaneous-Immunologic syndromes Nijmegen breakage syndrome (NBS) Neurologic-Cutaneous-Musculoskeletal syndromes Cantu syndrome Cerebral malformations-seizures-hypertrichosis-overlapping fingers syndrome Chromosome diploid/tetraploid mixoploidy syndrome Coffin-Siris syndrome Jaeken syndrome (Carbohydrate deficient glycoprotein (CDG) syndrome (CDGS) 1) Mental retardation-absent nails of hallux and pollex syndrome Schinzel-Giedion syndrome (SGS) Van den Bosch syndrome Neurologic-Cutaneous-Musculoskeletal-Craniofacial syndromes MORFAN (mental retardation-pre- and postnatal overgrowth-remarkable face-acanthosis nigricans) syndrome Neurologic-Cutaneous-Musculoskeletal-Craniofacial-Immunologic syndromes Mulvihill-Smith syndrome Neurologic-Cutaneous-Musculoskeletal-Sensorineural syndromes DOOR (deafness-onychodystrophy-osteodystrophy-retardation) syndrome Neurologic-Cutaneous-Ophthalmic syndromes Fishman syndrome< GAPO syndrome Neurologic-Craniofacial-Auditory syndromes Branchial arch syndrome Neurologic-Craniofacial-Cardiovascular syndromes Generalized hypotonia-congenital hydronephrosis-characteristic face syndrome Neurologic-Craniofacial-Cardiovascular-Gastrointestinal syndromes Kapur-Toriello syndrome Neurologic-Craniofacial-Cardiovascular-Musculoskeletal syndromes Chromosome 1p deletion syndrome Mental retardation-mitral valve prolapse-characteristic face syndrome Neurologic-Craniofacial-Cardiovascular-Musculoskeletal-Urogenital syndromes Chromosome 1q deletion syndrome Chromosome 1q duplication syndrome Neurologic-Craniofacial-Cardiovascular-Ophthalmic syndromes Lowry-MacLean syndrome Neurologic-Craniofacial-Cardiovascular-Renal syndromes Mutchinick syndrome Neurologic-Craniofacial-Endocrine syndromes Sanjad-Sakati syndrome Tariverdian syndrome Zollino syndrome Neurologic-Craniofacial-Gastrointestinal syndromes Bohring syndrome Neurologic-Craniofacial-Musculoskeletal syndromes Acrocallosal syndrome (Schinzel syndrome 1) Alopecia-contractures-dwarfism (ACD)-mental retardation syndrome Baraitser-Winter syndrome Cerebrocostomandibular (CCM) syndrome (CCMS) (Smith-Theiler-Schachenmann syndrome) Cerebrofaciothoracic syndrome or dysplasia Chromosome X fragility syndrome Cornelia de Lange Syndrome (CdLS) Fucosidosis Hutchinson-Gilford progeria Mental retardation-coarse face-microcephaly-epilepsy-skeletal abnormalities syndrome Mental retardation-overgrowth-craniosynostosis-distal arthrogryposis-sacral dimple-joint laxity syndrome Mental retardation-coarse facies-epilepsy-joint contractures syndrome Microcephaly-mild mental retardation-short stature-skeletal anomalies syndrome Mucopolysaccharidosis (MPS) I (Ellis-Sheldon syndrome, Hurler syndrome) Mucopolysaccharidosis (MPS) II (Hunter syndrome) Mucopolysaccharidosis (MPS) III (A, B, C, D) (Sanfilippo syndrome (A, B, C, D)) Mucopolysaccharidosis (MPS) IV (A, B) (Brailsford syndrome) Mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy disease) Mucopolysaccharidosis (MPS) VII (Sly syndrome) Mucopolysaccharidosis (MPS) VIII (DiFerrante syndrome) Nicolaides-Baraitser syndrome (NCBRS) Osteopenia-sparse hair-mental retardation syndrome Pallister syndrome 1 (W syndrome) Porteous syndrome Seckel syndrome (SS) Toriello syndrome II Toriello-Carey syndrome Van Haldergem syndrome X-linked mental retardation 3 (MRX3, XLMR3) X-linked mental retardation 6 (MRX6, XLMR6) X-linked mental retardation 21 (MRX21, XLMR21) X-linked mental retardation 28 (MRX28. XLMR28) X-linked mental retardation 35 (MRX35, XLMR35) X-linked mental retardation 36 (MRX36, XLMR36) X-linked mental retardation 37 (MRX37, XLMR37) Neurologic-Craniofacial-Ophthalmic-Immunologic syndromes Toriello syndrome I Neurologic-Craniofacial-Musculoskeletal-Auditory syndromes Fountain syndrome Hearing loss-mental deficiency-growth retardation-clubbed digits-EEG abnormalities syndrome Mental retardation-hearing impairment-distinct facies-skeletal anomalies syndrome Myhre syndrome Neurologic-Craniofacial-Musculoskeletal-Auditory-Dental syndromes Cerebro-oculo-dento-auriculo-skeletal (CODAS) syndrome Neurologic-Craniofacial-Musculoskeletal-Cutaneous-Ophthalmic syndromes Prieto syndrome (PRS) (X-linked mental retardation syndrome 2 (MRXS2)) Neurologic-Craniofacial-Musculoskeletal-Endocrine syndromes Miles-Carpenter syndrome (MCS) (X-linked mental retardation syndrome 4 (MRXS4)) Sutherland-Haan syndrome (SHS) (X-linked mental retardation syndrome 3 (MRXS3)) Neurologic-Craniofacial-Musculoskeletal-Urogenital syndromes Mental retardation-polydactyly-phalangeal hypoplasia-syndactyly-unusual face-uncombable hair syndrome Neurologic-Craniofacial-Cutaneous syndromes Kaufman syndrome (3) Neurologic-Craniofacial-Cutaneous-Gastrointestinal-Auriculoocular-Musculoskeletal-Renal-Urogenital syndromes BRESHECK (brain anomalies-retardation of mentality and growth-ectodermal dysplasia-skeletal malformations-Hirschsprung disease-ear deformity and deafness-eye hypoplasia-cleft palate-cryptorchidism-kidney dysplasia/hypoplasia) syndrome Neurologic-Craniofacial-Ophthalmic-Auditory syndromes X-linked mental retardation-blindness-deafness-multiple congenital anomalies syndrome Neurologic-Craniofacial-Ophthalmic syndromes Infantile cerebello-optic atrophy (progressive encephalopathy-edema-hypsarrhythmia-optic atrophy (PEHO) syndrome) HEC syndrome Neurologic-Craniofacial-Urogenital syndromes BOErjeson syndrome Urofacial syndrome (Ochoa syndrome) Neurologic-Endocrine-Immunologic syndromes Chromosome 15q triplication syndrome Neurologic-Endocrine-Ophthalmic syndromes Martsolf syndrome Mental retardation-ataxia-hypotonia-hypogonadism-retinal dystrophy syndrome. Neurologic-Endocrine- Urogenital syndromes Urban-Rogers-Meyer syndrome Neurologic-Gastrointestinal syndrome Gangliosidosis GM3 Hyperammonemic syndrome (Ornithine transcarbamylase (OTC) deficiency (OTCD)) Neurologic-Gastrointestinal-Ophthalmic syndromes Hyperpipecolic acidemia-hepatomegaly-mental retardation-optic dysplasia-progressive neurological disease syndrome Neurologic-hematologic syndromes Ataxia-pancytopenia syndrome Neurologic-Musculoskeletal syndromes Allan-Herndon-Dudley syndrome (AHDS) Bickers-Adams syndrome Biemond syndrome (BS) 1 Biemond syndrome (BS) 2 Christian syndrome 2 Chromosome 1p duplication syndrome Chromosome 14 uniparental disomy syndrome Corpus callosum hypoplasia-retardation-adducted thumbs-spastic paraparesis-hydrocephalus (CRASH) syndrome de Lange syndrome 1 de Lange syndrome 2 Dysosteosclerosis (DOS) Gangliosidosis GM1, type II (Derry syndrome) GMS syndrome (goniodysgenesis, intellectual disability, short stature) Hydrocephalus-skeletal anomalies-mental disturbances syndrome Kaveggia syndrome (BD syndrome) Kohlschutter-Toenz syndrome (KTS) Mental retardation-spastic paraplegia (paraparesis) syndrome Mesoaxial hexadactyly-cardiac malformation syndrome Paine syndrome Partington syndrome (PRTS) (X-linked mental retardation syndrome 1 (MRXS1)) Stoll syndrome (mental retardation-short stature-hypertelorism syndrome) Warkany syndrome 1 X-linked mental retardation 22 (MRX22, XLMR22) X-linked mental retardation 33 (MRX33, XLMR33) Neurologic-Musculoskeletal-Cardiovascular-Ophthalmic syndromes Chromosome 13 ring syndrome Fryns-van den Berghe syndrome (Onat syndrome) Neurologic-Musculoskeletal-Cardiovascular syndromes Bergia syndrome Chromosome 8p mosaic tetrasomy Chromosome 17q duplication syndrome Neurologic-Musculoskeletal-Cardiovascular-Endocrine syndromes Moynahan syndrome 1 Neurologic-Musculoskeletal-Cardiovascular-Hematologic syndromes McLeod syndrome Neurologic-Musculoskeletal-Endocrine syndromes Young-Hughes syndrome Neurologic-Musculoskeletal- Endocrine-Ophthalmic-Auditory Syndromes Flynn-Aird syndrome Neurologic-Musculoskeletal-Sensorineural Syndromes Richards-Rundle syndrome (RRS) Neurologic-Musculoskeletal-Gastrointestinal-Sensorineural Syndromes Deafness-femoral epiphyseal dysplasia-short stature-developmental delay syndrome Neurologic-Musculoskeletal-Ophthalmic-Auditory syndrome Gustavson syndrome Neurologic-Musculoskeletal-Endocrine-Ophthalmic syndromes Laurence-Moon syndrome Renpenning syndrome 1 Neurologic-Musculoskeletal-Cutaneous-Endocrine-Ophthalmic-Auditory- syndromes Mental retardation-congenital cataracts-sensorineural deafness-hypogonadism-hypertrichosis-short stature syndrome Neurologic-Musculoskeletal-Ophthalmic syndromes Cerebellar vermis hypo/aplasia-oligophrenia-congenital ataxia-ocular coloboma-hepatic fibrosis (COACH) syndrome Gurrieri syndrome (mental retardation-epilepsy-short stature-skeletal dysplasia syndrome) Lowry-Wood syndrome (LWS) Marinesco-Sjoegren-like syndrome (MSLS) Mietens-Weber syndrome Moebius syndrome Rodrigues syndrome Neurologic-Musculoskeletal-Urogenital syndromes Bardet-Biedl syndrome (BBS) Branchio-skeleto-genital (BSG) syndrome (ElSahy-Waters syndrome) Chromosome 15q duplication syndrome Passos-Bueno syndrome Prader-Willi syndrome (PWS) Proud syndrome Urban-Rogers-Meyer syndrome X-linked seizures-acquired micrencephaly-agenesis of corpus callosum syndrome Neurologic-Pulmonary Syndromes Joubert-Boltshauser syndrome Plott syndrome (familial vocal cord dysfunction) Neurologic-Ophthalmic syndromes Aicardi syndrome Aldred syndrome Ataxia-microcephaly-cataract (AMC) syndrome Behr syndrome 2 Chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS) Gillespie syndrome 2 Joubert syndrome Marinesco-Sjoegren syndrome (MSS) Mirhosseini-Holmes-Walton syndrome Mollica syndrome Sato syndrome X-linked mental retardation 10 (MRX10, XLMR10) X-linked mental retardation 11 (MRX11, XLMR11) X-linked mental retardation 12 (MRX12, XLMR12) Neurologic-Ophthalmic-Cardiovascular-Auditory-Endocrine syndromes Ohdo blepharophimosis syndrome Neurologic-Ophthalmic-Urogenital syndromes chromosome 11p deletion syndrome MORM syndrome Neurologic-Ophthalmic-Pulmonary syndromes Bertini syndrome Neurologic-Ophthalmic-Sensorineural syndromes Begeer syndrome Norrie syndrome Neurologic-Renal syndromes Galloway syndrome Neurologic-vascular syndromes Bourneville-Pringle syndrome < Neurologic-Vascular-Gastrointestinal syndromes Ruvalcaba-Myhre-Smith syndrome (RMSS) Ophthalmic syndromes Ascher's syndrome Blepharonasofacial syndrome (Pashayan-Pruzansky syndrome) Brown's syndrome Cataract-microcornea syndrome Fukuyama syndrome Graham syndrome Jalili syndrome Leber congenital amaurosis (LCA) Lenz syndrome 2 Senior-Loken syndrome Ophthalmic-Auditory-Cardiovascular syndromes Congenital rubella syndrome (CRS) Ophthalmic-Auditory-Cutaneous-Neurologic syndromes Waardenburg syndrome Ophthalmic-Cardiovascular-Gastrointestinal-Urologic syndromes Cat eye syndrome (CES) (Schmid-Fraccaro syndrome) Ophthalmic-Craniofacial-Endocrine-Neurologic syndromes Kearns-Sayre syndrome Ophthalmic-Craniofacial syndromes Stickler syndrome Ophthalmic-Craniofacial-Cutaneous syndromes Hermansky-Pudlak syndrome (HPS)< < Ophthalmic-Craniofacial-Musculoskeletal-Neurologic syndromes Michels syndrome Congenital cataracts-sensorineural deafness-Down syndrome-like facial appearance-short stature-mental retardation syndrome Gorlin syndrome OR (Gillespie syndrome, oculo-dento-digital (ODD) syndrome) Rieger syndrome (RGS) Ophthalmic-Craniofacial-Musculoskeletal-Renal-Urogenital syndromes Fraser syndrome Ophthalmic-Craniofacial-Neurologic syndromes Axenfeld-Rieger syndrome Rutherfurd syndrome Ophthalmic-Cutaneous-Cardiovascular-Neurologic-Auditory syndromes Zunich syndrome (CHIME syndrome: colobomas-heart defects-ichthyosiform dermatosis-mental retardation-ear defects) Ophthalmic-Cutaneous-Neurologic syndromes Cataract-hypertrichosis-mental retardation (CAHMR) syndrome Delleman syndrome (oculo-cerebro-cutaneous (OCC) syndrome) Ophthalmic-Dental-Gastrointestinal syndromes Axenfeld syndrome Ophthalmic-Dental-Neurologic syndromes Nance-Horan syndrome (NHS) Ophthalmic-Hematologic-Cutaneous-Neurologic syndromes Revesz syndrome Ophthalmic-Neurologic syndromes Ardalan-Shoja-Kiuru syndrome Ayazi syndrome Crome syndrome Lenz microphthalmia syndrome (LMS) Microphthalmia-mental deficiency syndrome Seemanova-Lesny syndrome Shallow orbits-ptosis-coloboma-trigonocephaly-gyral malformations-mental and growth retardation syndrome Usher syndrome (US) (Graefe-Usher syndrome, Hallgren syndrome) Went syndrome Zamzam-Sheriff-Phillips syndrome Ophthalmic-Neurologic-Endocrine syndromes Blepharophimosis syndrome (blepharophimosis-ptosis-epicanthus inversus (BPEI) syndrome (BPES)) Carnevale syndrome Developmental delay-short stature-anterior chamber cleavage disorder-cerebellar hypoplasia-endocrine disturbances-tracheostenosis syndrome Ptosis-downslanting palpebral fissures-hypertelorism-seizures-mental retardation syndrome Ophthalmic-Neurologic-Endocrine-Renal syndromes Lowe syndrome (LS) Ophthalmic-Neurologic- Musculoskeletal-Endocrine-Gastrointestinal syndromes Leber congenital amaurosis-short stature-growth hormone insufficiency-mental retardation-hepatic dysfunction-metabolic acidosis syndrome Ophthalmic-Neurologic-Musculoskeletal syndromes Blepharophimosis-ptosis-syndactyly-short stature syndrome Cataract-motor system disorder-short stature-learning difficulty-skeletal abnormalities syndrome Chromosome 13q deletion syndrome (Orbeli syndrome) Krause-Kivlin syndrome (Peters-plus syndrome) Laurence-Moon syndrome (LMS) Neuhauser syndrome Waardenburg syndrome 3 (Ophthalmo-acromelic syndrome) Ophthalmic-Neurologic-Musculoskeletal-Renal syndromes Sommer syndrome Ophthalmic-Neurologic-Auditory-Renal syndromes coloboma-cleft lip/palate-mental retardation syndrome Ophthalmic-Renal-Urogenital syndromes WAGR syndrome Ophthalmic-Urogenital syndromes Opitz syndrome (OS) Pulmonary syndromes Mounier-Kuhn syndrome (tracheobronchomegaly) Pulmonary-Cutaneous-Musculoskeletal-Neurologic syndromes Watson syndrome Pulmonary-Neurologic-Auditory-Urogenital syndromes Congenital emphysema-cryptorchidism-penoscrotal web-deafness-mental retardation syndrome Renal syndromes Alport syndrome Bartter syndrome (BS) Renal-Auricular syndromes BOR syndrome (branchiootorenal syndrome) Lachiewicz-Sibley syndrome Renal-Endocrine-Musculoskeletal-Neurologic syndromes Perlman syndrome Renal-musculoskeletal syndromes Acrorenal syndrome Geleophysic dysplas Ulbright-Hodes syndrome (Renal dysplasia-limb defects syndrome (RL syndrome)) Renal-Ophthalmic syndromes Papillorenal syndrome Renal mesangial sclerosis-eye defects syndrome Urogenital Syndromes Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) (Mullerian agenesis) Urogenital-Neurologic syndromes Hypospadias-mental retardation syndrome Urogenital-Neurologic-Musculoskeletal-Craniofacial syndromes Malpuech syndrome Kufor-Rakeb syndrome

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Nima Rezaei, is a MD, PhD in Clinical Immunology and Human Genetics. Having finished his PhD he was awarded a fellowship in Clinical Immunology and Bone Marrow Transplantation, Paediatric Immunology and Infectious Diseases in Northern Supra Regional Bone Marrow Transplant Unit for SCID and Related Disorders, Newcastle General Hospital. He has since authored more than 500 publications, including the Springer, Primary Immunodeficiency Diseases , Immunology of Aging and Cancer Immunology series, to which he was awarded the 10th, 16th and 17th Avicenna Award for the book of the year. He was recognized as the distinguished young researcher to the prestigious Rhazi Award in in Medical Science Research on 2006 and 2012. In 2017 he was recognized by the National Academy of Medical Sciences, as Iran's Best Medical Researcher of the Past Decade''. Iranian Primary Immunodeficiency Diseases Registry (IPIDR) since 1999, having more than thousands of PID and Paediatric Allergology and Immunology registered, is indeed one of his great scientific legacies.

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