Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 *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