Matthew-Wood syndrome

Orpha code: 2470OMIM code: 615524

Definicja

A rare, genetic congenital malformation syndrome characterized by bilateral anopthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Anophthalmia-pulmonary hypoplasia syndrome
MCOPS9
Anoftalmia - hipoplazja płuc
Syndromiczna mikroftalmia typu 9
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
Kod ORPHA
2470
Kod OMIM
615524
Kod ICD10
Q11.2
Kod ICD11
LD21.0

No additional description.

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