Catalog
Syndromes with multiple structural anomalies, not of environmental origin
Link to WHO Definition
Syndromes with multiple structural anomalies, not of environmental origin – http://id.who.int/icd/entity/1106405864
Parents
Children
- Nijmegen breakage syndrome-like disorder
- Catel-Manzke syndrome
- Deafness – onychodystrophy
- Richieri Costa-Pereira syndrome
- Uveal coloboma - cleft lip and palate - intellectual deficit
- SCARF syndrome
- Keutel syndrome
- Encephalocraniocutaneous lipomatosis
- Split hand - split foot - deafness
- Ectrodactyly - ectodermal dysplasia without clefting
- 46,XX disorder of sex development - anorectal anomalies
- Kabuki syndrome
- Spondylocostal dysostosis - anal and genitourinary malformations
- Bifid nose - anorectal and renal anomalies
- Branchio-otic syndrome
- MULIBREY nanism
- Holmes-Schepens syndrome
- Acrocephalopolydactyly
- Oculo-digito-oesophageal-duodenal syndrome
- Opitz BBB/G syndrome
- Ramon syndrome
- Ectrodactyly - ectodermal dysplasia - cleft lip or palate
- Pai syndrome
- Hand-foot-uterus syndrome
- Ectodermal dysplasia - ectrodactyly - macular dystrophy
- Osteosclerosis - developmental delay - craniosynostosis
- Alagille syndrome
- Camptodactyly - tall stature - scoliosis - hearing loss
- Thoraco-abdominal enteric duplication
- Acrocallosal syndrome
- Double uterus - hemivagina - renal agenesis
- Ectrodactyly - cleft palate
- Craniosynostosis - cataract
- 3MC syndrome
- Meacham syndrome
- Blepharophimosis-intellectual deficit syndrome, Ohdo type
- PELVIS syndrome
- Gorham-Stout disease
- Overgrowth - craniosynostosis - arthrogryposis
- fetal akinesia sequence
- Fryns syndrome
- Okihiro syndrome
- Van Der Woude syndrome
- McDonough syndrome
- Cardioskeletal syndromes
- 5C60.0 Oculocerebrorenal syndrome
- LD2F.10 Prune belly syndrome
- Macrocephaly - capillary malformation
- Arthrogryposis multiplex congenita - lissencephaly
- Marshall syndrome
- Dahlberg-Borer-Newcomer syndrome
- Mullerian duct anomalies - limb anomalies
- LD2H.3 Waardenburg-Shah syndrome
- Malpuech syndrome
- RAPADILINO syndrome
- Cranio-facio-cardio-skeletal syndrome
- LD2F.11 VATER association
- Branchio-oculo-facial syndrome
- Toriello-Carey syndrome
- Hypotelorism - cleft palate - hypospadias
- Agonadism - dextrocardia - diaphragmatic hernia
- Ulnar-mammary syndrome
- LD2F.14 MURCS association
- Microgastria - limb reduction defect
- Currarino triad
- Pitt-Rogers-Danks syndrome
- FG syndrome
- Shprintzen-Goldberg omphalocele syndrome
- HERNS syndrome
- Williams-Beuren syndrome
- VACTERL with hydrocephalus
- Knobloch syndrome
- Hydrolethalus
- Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis
- Haddad syndrome
- Branchio-skeleto-genital syndrome
- Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia
- Autosomal recessive cutis laxa, type 3
- Hirschsprung disease - deafness - polydactyly
- Phocomelia, Schinzel type
- Goldberg-Shprintzen megacolon syndrome
- Coloboma of macula - brachydactyly type B
- CAMFAK syndrome
- Deafness - ear malformation - facial palsy
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Carey-Fineman-Ziter syndrome
- Triple A syndrome
- Cornelia de Lange syndrome
- Cat-eye syndrome
- Osteosclerosis abnormalities of nervous system or meninges
- PHACE syndrome
- Pallister-Hall syndrome
- WAGR syndrome
- Cantrell pentalogy
- Moebius syndrome
- Osteopoikilosis - short stature - intellectual deficit
- Tetraamelia - multiple malformations
- TARP - [Talipes equinovarus - atrial septal defect - Robin sequence - persistent left superior vena cava] syndrome
- Costello syndrome
- Acrorenal syndrome
- Caudal duplication
- Limb-mammary syndrome
- Craniosynostosis - synostoses - hypertensive nephropathy
- Lethal arthrogryposis - anterior horn cell disease
- Mowat-Wilson syndrome
- Filippi syndrome
- Kleefstra syndrome
- Endosteal sclerosis - cerebellar hypoplasia
- Genito-palato-cardiac syndrome
- Fuhrmann-Rieger-de Sousa syndrome
- Syndactyly - telecanthus - anogenital and renal malformations
- Pitt-Hopkins syndrome
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
- Floating-Harbor syndrome
- Aarskog-Scott syndrome
- Craniosynostosis - anal anomalies - porokeratosis
- Roberts syndrome
- Shwachman-Diamond syndrome
- Ablepharon-macrostomia syndrome
- Stickler syndrome
- Bardet-Biedl syndrome
- Perrault syndrome
- Caudal regression sequence
- Waardenburg syndrome
- Capra-DeMarco syndrome
- Oculopalatocerebral syndrome
- Limb body wall complex
- Congenital cataracts - facial dysmorphism - neuropathy
- Genito-patellar syndrome
- Coffin-Lowry syndrome
- Stapes ankylosis with broad thumbs and toes
- Juberg-Hayward syndrome
- Endocrine-cerebro-osteodysplasia syndrome
- Papillorenal syndrome
- Amniotic bands
- LD2F.16 Otomandibular dysplasia
- Thrombocytopaenia - absent radius
- Ochoa syndrome
- Boissel lethal polymalformative syndrome
- KBG syndrome
- X-linked intellectual deficit with marfanoid habitus
- LD2F.12 Sirenomelia
- Branchio-oto-renal syndrome
- Femoral-facial syndrome
- CHARGE syndrome
- Phocomelia - ectrodactyly - deafness - sinus arrhythmia
- Maffucci syndrome
- MODY 5 syndrome
- Craniosynostosis - Dandy-Walker malformation - hydrocephalus
- Umbilical cord ulceration - intestinal atresia
- Cardiocranial syndrome, Pfeiffer type
- Osteosclerosis - ichthyosis - premature ovarian failure
- Macrocephaly – alopecia – cutis laxa – scoliosis syndrome
- Townes-Brocks syndrome
- Transverse limb deficiency - haemangioma
- Cloverleaf skull - multiple congenital anomalies
- Rubinstein-Taybi syndrome
- LD2F.13 Meckel-Gruber syndrome
- Lowry-MacLean syndrome
- Marfanoid habitus - intellectual deficit, autosomal recessive
- Cataract - intellectual deficit - hypogonadism
- Lethal restrictive dermopathy
- Cavernous haemangiomas of face - supraumbilical midline raphe
- Coffin-Siris syndrome
- Silver-Russell syndrome
- Adams-Oliver syndrome
- Blepharocheilodontic syndrome
- Dubowitz syndrome
- Familial intestinal malrotation - facial anomalies
- Noonan syndrome or related disorders
- Rieger syndrome
- Hypopituitarism - micropenis - cleft lip or palate
- Zimmermann-Laband syndrome
- Warsaw breakage syndrome
- Osteopathia striata - pigmentary dermopathy - white forelock
- Acro-renal-mandibular syndrome
- Nance-Horan syndrome
- LD2H.0 Fraser syndrome
- Ankyloblepharon filiforme adnatum - cleft palate
- Acrocardiofacial syndrome
- Smith-Magenis syndrome
- Dandy Walker malformation - facial haemangioma