Cataract-hypertrichosis-intellectual disability syndrome
Synonyms: CAHMR syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-hypertrichosis-intellectual disability syndrome | CAHMR syndrome |
| fr | Syndrome de cataracte-hypertrichose-déficience intellectuelle | Syndrome de CAHMR |
| de | Katarakt-Hypertrichose-Intelligenzminderung-Syndrom | CAHMR-Syndrom |
| es | Síndrome de catarata-hipertricosis-discapacidad intelectual | Síndrome CAHMR |
| it | Sindrome cataratta-ipertricosi-disabilità intellettiva | Sindrome di Cahmr · Sindrome di CAHMR |
| nl | Cataract - hypertrichose - intellectuele achterstand-syndroom | CAHMR-syndroom |
| pt | Síndrome de catarata-hipertricose-perturbação do desenvolvimento intelectual | Síndrome CAHMR |
| pl | Zaćma - hipertrichoza - niepełnosprawność intelektualna | Zespół CAHMR |
| cs | Syndrom zahrnující kataraktu, hypertrichózu a mentální retardaci | CAHMR syndrom |
| uk | Синдром катаракти - гіпертрихозу - інтелектуальної недостатності | Синдром CAHMR |
| zh | 白内障-多毛-智力障碍综合征 | CAHMR综合征 |
| tr | Katarakt-hipertrikoz-zihinsel yetersizlik sendromu | CAHMR sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211770 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.3 | NTBT | index | validated |
| MONDO | 0008894 | E | validated | |
| MeSH | C537959 | E | validated | |
| UMLS | C0796282 | 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 (5):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000519 | Developmental cataract | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001249 | Intellectual disability | |
| HP:0002162 | Low posterior hairline | |
| HP:0000691 | Microdontia | |
| HP:0000767 | Pectus excavatum | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1375
- This record as JSON: /data/d/1375.json