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.
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)
TaussigBing 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
EronduCymet 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)
KeppenLubinsky syndrome
Opitz trigonocephaly syndrome (C syndrome)<
Pierre Robin syndrome (PRS)
Raine syndrome (RNS) (osteosclerotic bone dysplasia)
Craniofacial-Auricular-Auditory syndromes
AbruzzoErickson syndrome
Pierre Robin sequence (WeissenbacherZweymuller 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
HoKaufmanMcalister 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-Urogeni
tal 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
PotockiShaffer syndrome (PSS)
Craniofacial-Cutaneous-Endocrine-Ophthalmic syndromes
FACES syndrome
Craniofacial-Cutaneous-Gastrointestinalsyndromes
Laband syndrome
Craniofacial-Cutaneous-Musculoskeletal syndromes
Circumferential skin creases-psychomotor retardation syndrome
Craniolenticulosutural dysplasia (Boyadjiev-Jabs syndrome)
ZoriStalkerWilliams 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
ConradiHünermann 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
Acrodermatounguallacrimaltooth syndrome
AdamsOliver syndrome
Abducted thumbs syndrome (Christian syndrome 1)
Adducted thumb syndrome (Gareis-Mason syndrome)
AntleyBixler syndrome
Apert syndrome
Aspartylglycosaminuria
Baller-Gerold syndrome (BGS)
Carpenter syndrome
CatelManzke 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)
FreemanSheldon 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, Vįradi-Papp
syndrome)
Orofaciodigital (OFD) syndrome I (Gorlin syndrome 1, Papillon-Léage 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
Genée-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) (Franēois 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 (GeneeWiedemann 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 (Rüdiger 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
PittHopkins syndrome
Pseudotoxoplasmosis syndrome
Skeletal dysplasia-joint laxity-mental retardation syndrome
SmithMagenis 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
ZimmermannLaband 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
BuschkeOllendorff syndrome (Dermatofibrosis lenticularis disseminate)
HayWells syndrome
Nakajo syndrome
NaegeliFranceschettiJadassohn syndrome (NFJS)
Netherton syndrome
Papillon-Lefčvre 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 López-Hernįndez 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-Ogür syndrome, BowenArmstrong
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
Nailpatella syndrome (NPS)
Sjögren-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
YoungSimpson 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
CriglerNajjar syndrome
Endocrine-Hematologic-Neurologic syndromes
DenysDrash 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)
Åkesson 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 Müllerian duct syndrome (PMDS)
Gastrointestinal syndromes
DubinJohnson syndrome
Gilbert's syndrome (GS)
LuceyDriscoll syndrome
PeutzJeghers 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
MowatWilson 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
JohansonBlizzard 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
LiFraumeni 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
KasabachMerritt 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)
ChédiakHigashi syndrome
Musculoskeletal syndromes
Achard syndrome
Acropectoral syndrome
Arthrogryposis multiplex congenita (AMC)
Currarino syndrome
Pseudohypertrophic progressive muscular dystrophy (Becker dystrophy, Duchenne
syndrome)
Desbuquois syndrome
Guérin-Stern syndrome
Ionasescu syndrome (Charcot-Marie syndrome, X-linked recessive, Type II)
KlippelFeil 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)
WallisZieffGoldblatt syndrome (Cleidorhizomelic syndrome)
Worth syndrome X-linked myotubular myopathy (XLMTM, MTMX) (centronuclear
myopathy (CNM))
Musculoskeletal-Auditory syndrome
Dystonia-deafness syndrome
Musculoskeletal-Cardiovascular syndromes
EhlersDanlos syndrome (EDS)
HoltOram 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
YunisVaron 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-Debré-Sémélaigne (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
WeillMarchesani syndrome 9Spherophakia-brachymorphia syndrome)
Musculoskeletal-Craniofacial-Urogenital syndromes
AarskogScott syndrome (Greig syndrome) (ICD 10: Q87.1)
Robinow syndrome (Mesomelic dwarfism-small genitalia syndrome)
Musculoskeletal-Craniofacial-Cutaneous-Neurologic syndromes
Trichorhinophalangeal (TRP) syndrome 2 (TRPS2) (Alč-Calņ 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
JohnsonMunson 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
CharcotMarieTooth 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
BhaskarJagannathan 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
Stüve-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-Trénaunay-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)
RileyDay 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)
Seemanovį 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
AbdallatDavisFarrage syndrome
AicardiGoutičres 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
Cantś 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
HutchinsonGilford progeria
Mental retardation-coarse face-microcephaly-epilepsy-skeletal abnormalities
syndrome
Ment
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 Irans 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.
