ORPHA:2007
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alar cartilages hypoplasia-coloboma-telecanthus syndrome | |
| fr | Syndrome de fente narinaire-colobome-télécanthus | |
| de | Flügelknorpel-Hypoplasie-Kolobom-Telekanthus-Syndrom | |
| es | Síndrome de hipoplasia de los cartílagos alares-coloboma-telecanto | |
| it | Sindrome ipoplasia delle cartilagini alari-coloboma-telecanto | |
| nl | Hypoplasie van kraakbeen van neusvleugel - coloboom - telecanthus-syndroom | |
| pt | Síndrome de hipoplasia das cartilagens alares-coloboma-telecanto | |
| pl | Zespół hipoplazji chrząstek skrzydłowych nosa, rozszczepu i telekantusa | |
| cs | Syndrom zahrnující hypoplázii alárních chrupavek, kolobom a telekantus | |
| uk | Синдром гіпоплазії хрящів надгортанника-колобоми-телекантуса | |
| zh | 鼻翼软骨发育不全-缺损-眼距过宽综合征 | |
| tr | Alar kıkırdak hipoplazisi-kolobom-telekantus sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203000 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| MONDO | 0008744 | E | validated | |
| UMLS | C4302677 | E | validated | |
| GARD | 588 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1273139[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1273139[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.
6
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003191 | Cleft ala nasi | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000316 | Hypertelorism | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000506 | Telecanthus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2007
- This record as JSON: /data/d/2007.json