ORPHA:1117
Aplasia cutis-myopia syndrome
historical
Synonyms: Gershoni-Baruch-Leibo syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aplasia cutis-myopia syndrome | Gershoni-Baruch-Leibo syndrome |
| fr | Syndrome d'aplasie cutanée-myopie | Syndrome de Gershoni-Baruch-Leibo |
| de | Aplasia cutis congenita-Myopie-Syndrom | Gershonibaruch-Leibo-Syndrom |
| es | Síndrome de aplasia cutis-miopía | Síndrome de Gershoni-Baruch-Leibo |
| it | Aplasia cutanea - miopia | Sindrome di Gershoni-Baruch-Leibo |
| nl | Aplasia cutis - myopie-syndroom | Syndroom van Gershoni-Baruch-Leibo |
| pt | Síndrome de aplasia cutânea-miopia | |
| pl | Ubytek skóry - miopia | Zespół Gershoni, Baruchi i Leibo |
| cs | Syndrom zahrnující aplasia cutis a myopii | Gershoniho-Baruchův-Leiboův syndrom · Gershoni-Baruch-Leiboův syndrom |
| uk | Синдром аплазії шкіри-міопії | Синдром Гершоні-Баруха-Лейбо |
| zh | 皮肤发育不良-近视综合征 | Gershoni-Baruch-Leibo综合征 |
| tr | Aplasia kutis-miyopi sendromu | Gershoni-Baruch-Leibo sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601075 | E | validated | |
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0010988 | E | validated | |
| UMLS | C4304032 | E | validated | |
| GARD | 756 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3395567[PMID]_8741916[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3395567[PMID]_8741916[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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0006934 | Congenital nystagmus | |
| HP:0011003 | High myopia | |
| HP:0001362 | Skull defect | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001287 | Meningitis | |
| HP:0200042 | Skin ulcer | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1117
- This record as JSON: /data/d/1117.json