Choroidal atrophy-alopecia syndrome
Synonyms: Moloney syndrome · Regional choroidal atrophy and alopecia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choroidal atrophy-alopecia syndrome | Moloney syndrome · Regional choroidal atrophy and alopecia |
| fr | Syndrome d'atrophie choroïdienne-alopécie | Syndrome de Moloney |
| de | Aderhautatrophie-Alopezie-Syndrom | Moloney-Syndrom · Regionale Choroidea-Atrophie und Alopezie |
| es | Síndrome de atrofia coroidea-alopecia | Atrofia coroidea y alopecia regionales · Síndrome de Moloney |
| it | Atrofia della coroide - alopecia | Atrofia regionale della coroide e alopecia · Sindrome di Moloney |
| nl | Choroïdale atrofie - alopecie-syndroom | Regionale choroïdale atrofie en alopecie · Syndroom van Moloney |
| pt | Síndrome de atrofia coroideia-alopecia | Síndrome Moloney |
| pl | Atrofia błony naczyniowej - łysienie | Miejscowa atrofia błony naczyniowej i łysienie · Zespół Moloney'a |
| cs | Syndrom zahrnující choroidální atrofii a alopecii | Regionální choroidální atrofie a alopecie · Moloneyův syndrom |
| uk | Синдром хоріоїдальної атрофії-алопеції | Синдром Молоні · Регіональна хоріоїдальна атрофія та алопеція |
| zh | 脉络膜萎缩-秃发综合征 | 局灶性脉络膜萎缩及秃发 |
| tr | Koroidal atrofi-alopesi sendromu | Moloney sendromu · Bölgesel koroidal atrofi ve alopesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0015428 | E | validated | |
| MeSH | C535810 | E | validated | |
| UMLS | C2931026 | E | validated | |
| GARD | 3704 | 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:716299Rare disorder with non-progressive predominantly chorioretinal 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 | 10994447[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10994447[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
16 annotations · validated 2023-04-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0002213 | Fine hair | |
| HP:0008070 | Sparse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0100804 | Ungual fibroma | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0010793 | Bifid nail | |
| HP:0006101 | Finger syndactyly | |
| HP:0040262 | Glue ear | |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium | |
| HP:0008402 | Ridged fingernail | |
| HP:0002558 | Supernumerary nipple | |
| HP:0045074 | Thin eyebrow | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10994447[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1433
- This record as JSON: /data/d/1433.json