Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Anophthalmia-pulmonary hypoplasia syndrome MCOPS9 Anoftalmia - hipoplazja płuc Syndromiczna mikroftalmia typu 9 PDAC syndrome Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome Spear syndrome ORPHA code 2470 OMIM code 615524 ICD10 code Q11.2 ICD11 code LD21.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl