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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Matthew-Wood syndrome?
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Advocacy Organizations
A cure for Sophia and friends
A Cure for Sophia and Friends paves the way towards a cure for the ultra-rare RARB genetic mutation (MCOPS12). A Cure for Sophia and Friends is the U.S. based non-profit in partnership with Cure MCOPS12, a non-profit based in Austria. Together, we accelerate cutting-edge research and drive relentless efforts to improve the lives of MCOPS12 patients
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.