microphthalmia syndromic type 9

(redirected from Matthew-Wood syndrome)

microphthalmia syndromic type 9

A rare, clinically heterogeneous disorder of eye formation (OMIM:601186) characterised by anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia, variably accompanied by congenital heart disease (e.g., ventricular septal defect, overriding aorta, vestigial pulmonary artery).

Molecular pathology
Defects in STRA6, which encodes a putative high-affinity cell surface receptor for the retinol-retinol-binding protein (RBP/RBP4) complex, cause syndromic microphthalmia type 9.
References in periodicals archive ?
Complex CDHs, which account for approximately 5% of cases of familial CDH, are often associated with midline fusion defects such as neural tube defects, cleft lip and palate, and omphalocele, e.g., Donnai-Barrow syndrome inherited in an autosomal recessive (AR) manner [5], Matthew-Wood syndrome [6], and an autosomal dominant (AD) disorder with decreased penetrance and/or variable expressivity with GATA4 or ZEP4 mutation [7, 8].
Thomas et al., "Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6," American Journal of Human Genetics, vol.