Synonyms: Anophthalmia-pulmonary hypoplasia syndrome | PDAC syndrome | Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome | Spear syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Curing single-gene disorders
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