Congenital generalized hypertrichosis, Ambras type
Synonyms: Ambras syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital generalized hypertrichosis, Ambras type | Ambras syndrome |
| fr | Hypertrichose congénitale généralisée type Ambras | Syndrome d'Ambras |
| de | Kongenitale generalisierte Hypertrichose Typ Ambras | Ambras-Syndrom · Hypertrichosis universalis congenita, Typ Ambras |
| es | Hipertricosis congénita generalizada tipo Ambras | Síndrome de Ambras |
| it | Ipertricosi generalizzata congenita, tipo Ambras | Sindrome di Ambras |
| nl | Congenitale gegeneraliseerde hypertrichose, Ambras-type | Syndroom van Ambras |
| pt | Hipertricose generalizada congénita, tipo Ambras | Síndrome Ambras |
| pl | Wrodzona uogólniona hipertrichoza typu Ambrasa | Zespół Ambrasa |
| cs | Vrozená generalizovaná hypertrichóza, Ambrasův typ | Ambrasův syndrom |
| uk | Вроджений генералізований гіпертрихоз, тип Амбрас | Синдром Амбраса |
| zh | 先天性全身性多毛，Ambras型 | Ambras综合征 |
| tr | Doğumsal jeneralize hipertrikoz, Ambras tipi | Ambras sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145701 | E | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007787 | E | validated | |
| MeSH | C536605 | E | validated | |
| UMLS | C1840362 | E | validated | |
| GARD | 8206 | 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 (1):
- ORPHA:2222Hypertrichosis lanuginosa congenita
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin 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 | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1023
- This record as JSON: /data/d/1023.json