Amaurosis-hypertrichosis syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amaurosis-hypertrichosis syndrome | |
| fr | Syndrome d'amaurose-hypertrichose | |
| de | Amaurose-Hypertrichose-Syndrom | |
| es | Síndrome de amaurosis-hipertricosis | |
| it | Sindrome da amaurosi-ipertricosi | |
| nl | Amaurosis - hypertrichose-syndroom | |
| pt | Síndrome de amaurose-hipertricose | |
| pl | Zespół ślepoty jednoocznej i hipertrichozy | |
| cs | Syndrom zahrnující amaurózu a hypertrichózu | |
| uk | Амаврозно-гіпертрихозний синдром | |
| zh | 黑蒙多毛综合征 | |
| tr | Amoroz-hipertrikoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204110 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0008766 | E | validated | |
| MeSH | C536604 | E | validated | |
| UMLS | C4303739 | E | validated | |
| GARD | 637 | 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:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:716405Rare disorder with 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 | 2769722[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2769722[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0002208 | Coarse hair | |
| HP:0000548 | Cone/cone-rod dystrophy | |
| HP:0008499 | High hypermetropia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000613 | Photophobia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000505 | Visual impairment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1021
- This record as JSON: /data/d/1021.json