Macular coloboma-cleft palate-hallux valgus syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macular coloboma-cleft palate-hallux valgus syndrome | |
| fr | Syndrome de colobome maculaire-fente palatine-hallux valgus | |
| de | Makulakolobom-Gaumenspalte-Hallux valgus-Syndrom | |
| es | Síndrome de coloboma macular-paladar hendido-hallux valgus | |
| it | Sindrome coloboma maculare-palatoschisi-alluce valgo | |
| nl | Maculacoloboom - gespleten gehemelte - hallux valgus-syndroom | |
| pt | Síndrome de coloboma macular-fenda palatina-hallux valgus | |
| pl | Szczelina plamki - rozszczep podniebienia - paluch koślawy | |
| cs | Syndrom zahrnující makulární kolobom, rozštěp patra a hallux valgus | |
| uk | Синдром макулярної колобоми-розщілини піднебіння-hallux valgus | |
| zh | 黄斑缺损-腭裂-拇外翻综合征 | |
| tr | Maküler kolobom-yarık damak-halluks valgus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009001 | E | validated | |
| UMLS | C4302525 | 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:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
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 | 4977272[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4977272[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/91494
- This record as JSON: /data/d/91494.json