Cataract-congenital heart disease-neural tube defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-congenital heart disease-neural tube defect syndrome | |
| fr | Syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural | |
| de | Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-Syndrom | |
| es | Síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural | |
| it | Sindrome cataratta-cardiopatia congenita-difetto del tubo neurale | |
| nl | Cataract - congenitale hartziekte - neuralebuisdefect-syndroom | |
| pt | Síndrome de cataratas-cardiopatia congénita-defeito do tubo neural | |
| pl | Zespół zaćma-wrodzona wada serca-wada cewy nerwowej | |
| cs | Syndrom zahrnující kataraktu, vrozené srdeční vady a defekty neurální trubice | |
| uk | Синдром катаракти-вродженої вади серця-дефекту нервової трубки | |
| zh | X连锁非进行性小脑共济失调 | |
| tr | Katarakt-Doğumsal kalp hastalığı-nöral tüp defekt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608227 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011995 | E | validated | |
| UMLS | C4512052 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 11836368[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11836368[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314993
- This record as JSON: /data/d/314993.json