Matthew-Wood syndrome

Matthew-Wood syndrome, also known as pulmonary agenesis–microphthalmia syndrome or PDAC syndrome (Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia, and Cardiac defect), is an extremely rare autosomal recessive disorder caused by mutations in the STRA6 gene, which encodes a receptor for retinol-binding protein involved in cellular uptake of vitamin A. This syndrome represents one of the most severe manifestations of disrupted retinoid signaling during embryonic development. The condition affects multiple organ systems and is characterized by bilateral anophthalmia (absence of the eyes) or severe microphthalmia (abnormally small eyes), pulmonary hypoplasia or complete agenesis of the lungs, diaphragmatic defects including congenital diaphragmatic hernia, and congenital heart malformations such as ventricular or atrial septal defects. Additional features may include intellectual disability, facial dysmorphism, and other developmental anomalies. The ICD-10 code Q11.2 reflects the anophthalmia component of this multisystem disorder. The prognosis for Matthew-Wood syndrome is generally very poor, with many affected individuals dying in the neonatal period or during infancy due to severe pulmonary and cardiac complications. There is currently no curative treatment; management is supportive and symptomatic, focusing on respiratory support, surgical correction of diaphragmatic hernias and cardiac defects where feasible, and addressing visual impairment. Genetic counseling is recommended for affected families given the autosomal recessive inheritance pattern, with a 25% recurrence risk for carrier parents.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Matthew-Wood syndrome