Oculotrichodysplasia
historical
Synonyms: Cecato de Lima-Pinheiro syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculotrichodysplasia | Cecato de Lima-Pinheiro syndrome |
| fr | Oculo-tricho-dysplasie | Syndrome de Cecato de Lima-Pinheiro |
| de | Okulo-tricho-Dysplasie | Cecato-de-Lima-Pinheiro-Syndrom |
| es | Oculotricodisplasia | Síndrome de Cecato de Lima-Pinheiro |
| it | Oculo-trico-displasia | Sindrome di Cecato de Lima-Pinheiro |
| nl | Oculotrichodysplasie | Syndroom van Cecato de Lima-Pinheiro |
| pt | Oculo-tricodisplasia | Síndrome Cecato de Lima-Pinheiro |
| pl | Dysplazja oczno-włosowa | Zespół Cecato de Lima i Pinheiro |
| cs | Okulotrichodysplázie | Cecatto de Limaové-Pinheirové syndrom · Cecatto de Lima-Pinheirové syndrom |
| uk | Окулотриходисплазія | Синдром Секато де Ліма-Пінхейро |
| zh | 眼毛发发育不良 | Cecato de Lima-Pinheiro综合征 |
| tr | Okülotrikodisplazi | Cecato de Lima-Pinheiro sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257960 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009771 | E | validated | |
| MeSH | C564934 | E | validated | |
| UMLS | C1850332 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:716393Rare disorder with non-progressive generalized retinal 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 | 3398012[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3398012[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/2718
- This record as JSON: /data/d/2718.json