ORPHA:269531
Other syndrome with a central nervous system malformation as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Other syndrome with a central nervous system malformation as a major feature | |
| fr | Autre syndrome avec malformation du système nerveux central comme manifestation majeure | |
| de | Sonstiges Syndrom mit ZNS-Fehlbildung als Hauptmerkmal | |
| es | Otro síndrome con malformación del sistema nervioso central como característica principal | |
| it | Altra sindrome con malformazione del sistema nervoso centrale come segno cardinale | |
| nl | Ander syndroom met malformatie van centraal zenuwstelsel als hoofdkenmerk | |
| pt | Outro síndrome com uma malformação do sistema nervoso central como característica principal | |
| pl | Inny zespół z malformacją centralnego układu nerwowego jako głównym objawem | |
| cs | Jiný syndrom s malformací centrálního nervového systému jako hlavním příznakem | |
| uk | Інший синдром з вадою розвитку центральної нервової системи як основною ознакою | |
| zh | 以中枢神经系统畸形为主要特征的其他综合征 | |
| tr | Esas klinik özelliği merkezi sinir sistemi malformasyonu olan diğer sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17120 | E | validated | |
| UMLS | C5680765 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:729560Forebrain malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (51):
- ORPHA:664410Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
- ORPHA:251383CK syndrome
- ORPHA:314993Cataract-congenital heart disease-neural tube defect syndrome
- ORPHA:1756Caudal duplication
- ORPHA:603448Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
- ORPHA:66625Cerebrooculonasal syndrome
- ORPHA:314597Chudley-McCullough syndrome
- ORPHA:171839Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- ORPHA:708208Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome
- ORPHA:529574Duane retraction syndrome with congenital deafness
- ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:93932FG syndrome type 1
- ORPHA:659609Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
- ORPHA:1768Familial caudal dysgenesis
- ORPHA:221126Fowler vasculopathy
- ORPHA:2065Galloway-Mowat syndrome
- ORPHA:2117Hartsfield syndrome
- ORPHA:2165Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2163Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2184Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2189Hydrolethalus
- ORPHA:610569KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
- ORPHA:2351Kousseff syndrome
- ORPHA:83628LUMBAR syndrome
- ORPHA:444069Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- ORPHA:480528Lethal hydranencephaly-diaphragmatic hernia syndrome
- ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:210548Macrocephaly-intellectual disability-autism syndrome
- ORPHA:564Meckel syndrome
- ORPHA:500135Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- ORPHA:443162NDE1-related microhydranencephaly
- ORPHA:662207Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
- ORPHA:662189Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
- ORPHA:1647Oculocerebrocutaneous syndrome
- ORPHA:544469PRUNE1-related neurological syndrome
- ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome
- ORPHA:300573Polymicrogyria due to TUBB2B mutation
- ORPHA:250972Polymicrogyria with optic nerve hypoplasia
- ORPHA:306547Porencephaly-microcephaly-bilateral congenital cataract syndrome
- ORPHA:247198Progressive cerebello-cerebral atrophy
- ORPHA:356961SLC35A2-CDG
- ORPHA:729761Sandestig-Stefanova syndrome
- ORPHA:63862Schisis association
- ORPHA:3157Septo-optic dysplasia spectrum
- ORPHA:3176Spina bifida-hypospadias syndrome
- ORPHA:592570TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
- ORPHA:1861Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:688642Turnpenny-Fry syndrome
- ORPHA:443988Ventriculomegaly-cystic kidney disease
- ORPHA:3469XK aprosencephaly syndrome
- ORPHA:500150ZTTK syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269531
- This record as JSON: /data/d/269531.json