LD2F.1Y
Другие уточненные синдромы с множественными структурными аномалиями, не связанные с экзогенными факторами
Other specified syndromes with multiple structural anomalies, not of environmental origin
Index terms
WHO · EN- Other specified syndromes with multiple structural anomalies, not of environmental origin
- 46,XX disorder of sex development - anorectal anomalies
- 46,XX DSD - anorectal anomalies
- Aarskog-Scott syndrome
- Aarskog syndrome
- Faciodigitogenital syndrome
- Faciogenital dysplasia
- Ablepharon-macrostomia syndrome
- Acro-renal-mandibular syndrome
- Acrocallosal syndrome
- Acrocardiofacial syndrome
- Acrocephalopolydactyly
- Acrocephalopolydactylous dysplasia
- Elejalde syndrome
- Acrorenal syndrome
- Adams-Oliver syndrome
- Agonadism - dextrocardia - diaphragmatic hernia
- Ankyloblepharon filiforme adnatum - cleft palate
- Arthrogryposis multiplex congenita - lissencephaly
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
- Bifid nose - anorectal and renal anomalies
- BNAR - [Bifid nose - anorectal and renal anomalies] syndrome
- Blepharophimosis-intellectual deficit syndrome, Ohdo type
- Boissel lethal polymalformative syndrome
- Branchio-oculo-facial syndrome
- Branchio-otic syndrome
- Branchio-oto-renal syndrome
- BOR - [Branchio-oto-renal] syndrome
- Branchio-skeleto-genital syndrome
- CAMFAK syndrome
- Cataract - microcephaly - arthrogryposis - kyphosis
- CAMAK - [Cataract - microcephaly - arthrogryposis - kyphosis] syndrome
- Cataract - microcephaly - failure to thrive - kyphoscoliosis
- Camptodactyly - tall stature - scoliosis - hearing loss
- Cantrell pentalogy
- Cantrell syndrome
- Pentalogy of Cantrell
- Capra-DeMarco syndrome
- Craniosynostosis - hydrocephalus - Chiari I malformation - radio-ulnar synostosis
- Berant syndrome
- Familial scaphocephaly - radioulnar synostosis
- Cardiocranial syndrome, Pfeiffer type
- Cardioskeletal syndromes
- Heart-hand syndromes
- Brachydactyly - long thumb
- Heart-hand syndrome type 1
- Holt-Oram syndrome
- Heart-hand syndrome type 2
- Heart-hand syndrome type 3
- Heart-hand syndrome, Spanish type
- Heart-hand syndrome, Slovenian type
- Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
- Carey-Fineman-Ziter syndrome
- Catel-Manzke syndrome
- Caudal duplication
- Caudal regression sequence
- Sacral agenesis
- Cavernous haemangiomas of face - supraumbilical midline raphe
- Cloverleaf skull - multiple congenital anomalies
- Coffin-Lowry syndrome
- Coloboma of macula - brachydactyly type B
- Congenital cataracts - facial dysmorphism - neuropathy
- Cornelia de Lange syndrome
- Costello syndrome
- Cranio-facio-cardio-skeletal syndrome
- Cantu syndrome
- Craniosynostosis - anal anomalies - porokeratosis
- Craniosynostosis - cataract
- Craniosynostosis - Dandy-Walker malformation - hydrocephalus
- Craniosynostosis - synostoses - hypertensive nephropathy
- Currarino triad
- Dandy Walker malformation - facial haemangioma
- Deafness - ear malformation - facial palsy
- Double uterus - hemivagina - renal agenesis
- Ectrodactyly - cleft palate
- Endocrine-cerebro-osteodysplasia syndrome
- Endosteal sclerosis - cerebellar hypoplasia
- Familial intestinal malrotation - facial anomalies
- Femoral-facial syndrome
- fetal akinesia sequence
- FG syndrome
- Keller syndrome
- Opitz-Kaveggia syndrome
- Filippi syndrome
- Floating-Harbor syndrome
- Fryns syndrome
- Fuhrmann-Rieger-de Sousa syndrome
- Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
- Fuhrmann syndrome
- Genito-palato-cardiac syndrome
- Genito-patellar syndrome
- Goldberg-Shprintzen megacolon syndrome
- Haddad syndrome
- Hand-foot-uterus syndrome
- Hand-foot-genital syndrome
- HERNS syndrome
- Holmes-Schepens syndrome
- Donnai-Barrow syndrome
- Hypopituitarism - micropenis - cleft lip or palate
- Hypotelorism - cleft palate - hypospadias
- Juberg-Hayward syndrome
- Kabuki syndrome
- KBG syndrome
- Keutel syndrome
- Kleefstra syndrome
- Knobloch syndrome
- Limb body wall complex
- Lethal arthrogryposis - anterior horn cell disease
- Vuopala disease
- LAAHD - [Lethal arthrogryposis - anterior horn cell disease]
- Lowry-MacLean syndrome
- Malpuech syndrome
- Marfanoid habitus - intellectual deficit, autosomal recessive
- McDonough syndrome
- Meacham syndrome
- Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis
- Berdon syndrome
- MMIHS - [Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis]
- Microgastria - limb reduction defect
- Moebius syndrome
- Mowat-Wilson syndrome
- MULIBREY nanism
- Perheentupa syndrome
- Pericardial constriction - growth failure
- MULIBREY dwarfism
- Muscle-liver-brain-eye nanism
- Mullerian duct anomalies - limb anomalies
- Nance-Horan syndrome
- Noonan syndrome or related disorders
- Noonan-like syndrome with loose anagen hair
- LEOPARD syndrome
- Noonan with multiple lentigines syndrome
- Neurofibromatosis-Noonan syndrome
- Ochoa syndrome
- Oculo-digito-oesophageal-duodenal syndrome
- ODOD - [Oculo-digito-oesophageal-duodenal syndrome]
- Oculopalatocerebral syndrome
- Okihiro syndrome
- Opitz BBB/G syndrome
- Osteopathia striata - pigmentary dermopathy - white forelock
- Osteopoikilosis - short stature - intellectual deficit
- 12q14 deletion
- Osteosclerosis - developmental delay - craniosynostosis
- Osteosclerosis - ichthyosis - premature ovarian failure
- Osteosclerosis abnormalities of nervous system or meninges
- Overgrowth - craniosynostosis - arthrogryposis
- Pai syndrome
- Pallister-Hall syndrome
- PELVIS syndrome
- PHACE syndrome
- PHACE - [posterior fossa malformations – haemangiomas – arterial anomalies – cardiac defects – eye abnormalities – sternal cleft – supraumbilical raphe] syndrome
- Phocomelia, Schinzel type
- Pitt-Hopkins syndrome
- Pitt-Rogers-Danks syndrome
- RAPADILINO syndrome
- Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia
- RHYNS - [Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia] syndrome
- Richieri Costa-Pereira syndrome
- Roberts syndrome
- /SC phocomelia
- Shprintzen-Goldberg omphalocele syndrome
- Silver-Russell syndrome
- Silver-Russell dwarfism
- Russell-Silver syndrome
- Spondylocostal dysostosis - anal and genitourinary malformations
- Stapes ankylosis with broad thumbs and toes
- Stickler syndrome
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stickler syndrome type 3
- Stickler syndrome type 4
- Autosomal recessive Stickler syndrome
- Syndactyly - telecanthus - anogenital and renal malformations
- TARP - [Talipes equinovarus - atrial septal defect - Robin sequence - persistent left superior vena cava] syndrome
- Talipes equinovarus - atrial septal defect - Pierre Robin sequence - persistence of the left superior vena cava
- Tetraamelia - multiple malformations
- Thoraco-abdominal enteric duplication
- Toriello-Carey syndrome
- Townes-Brocks syndrome
- Transverse limb deficiency - haemangioma
- Ulnar-mammary syndrome
- Schinzel syndrome
- Umbilical cord ulceration - intestinal atresia
- Uveal coloboma - cleft lip and palate - intellectual deficit
- VACTERL with hydrocephalus
- Van Der Woude syndrome
- Warsaw breakage syndrome
- WABS - [Warsaw breakage syndrome]
- X-linked intellectual deficit with marfanoid habitus
- Zimmermann-Laband syndrome
- Hydrolethalus
- Rieger syndrome
- Axenfeld-Rieger syndrome
- Thrombocytopaenia - absent radius
- TAR - [Thrombocytopaenia - absent radius] syndrome
- Thrombocytopenia with absent radius syndrome
- Macrocephaly - capillary malformation
- Macrocephaly - cutis marmorata telangiectatica congenita (MIM 602501)
- Rubinstein-Taybi syndrome
- RSTS - [Rubinstein-Taybi syndrome]
- Broad thumb syndrome
- Broad thumb-hallux syndrome
- Ramon syndrome
- Cherubism – gingival fibromatosis – epilepsy – mental deficiency – hypertrichosis – stunted growth (Ramon) syndrome
- Maffucci syndrome
- Chondrodysplasia with haemangiomata
- Dyschondroplasia with cavernous haemangiomata
- Amniotic bands
- 3MC syndrome
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