Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | |
| fr | Syndrome d'aphakie congénitale-hypoplasie de l'iris-microphtalmie-microcornée | |
| de | Kongenitale Aphakie-Irishypoplasie-Mikrophthalmie-Mikrokornea-Syndrom | |
| es | Síndrome de afaquia-hipoplasia del iris-microftalmía-microcórnea congénito | |
| it | Sindrome da afachia congenita, ipoplasia delliride, microftalmia e microcornea | |
| nl | Congenitale afakie - hypoplasie van iris - microftalmie - microcornea-syndroom | |
| pt | Síndrome de afaquia congénita-hipoplasia da iris-microftalmia-microcórnea | |
| pl | Wrodzony zespół bezsoczewkowości-hipoplazji tęczówki-małoocza-mikrorogówki | |
| cs | Syndrom zahrnující vrozenou afakii, hypoplázii duhovky, mikroftalmii a mikrokorneu | |
| uk | Синдром вродженої афакії-гіпоплазії райдужки-мікрофтальмії-мікророгівки |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LA11.Y | NTBT | attributed | validated |
| MONDO | 0850050 | E | validated | |
| UMLS | C5681820 | 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:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders - ORPHA:522578Rare genetic disorder involving multiple structures of the eye
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/617449
- This record as JSON: /data/d/617449.json