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Definition

A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Acronym

MCOPS9

Synonyms

Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm
Anophthalmia/microphthalmia and pulmonary hypoplasia
Matthew-Wood syndrome
PDAC
PMD
Pulmonary agenesis, microphthalmia, and diaphragmatic defect
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect
Spear syndrome

Keywords

Microphthalmia

 
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