Isolated microphthalmia-anophthalmia-coloboma

Orpha code: 2542OMIM code: 156850

Definition

A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Disease data
Classification

Clinical group

Synonyms
Isolated anophthalmia-microphthalmia syndrome
Anoftalmia prymitywna
Anooftalmia kliniczna
Czysta izolowana mikroftalmia
ORPHA code
2542
OMIM code
156850
ICD10 code
-
ICD11 code
-

No additional description.

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