limb/pelvis-hypoplasia/aplasia syndrome

(redirected from Schnizel phocomelia syndrome)

limb/pelvis-hypoplasia/aplasia syndrome

A syndrome (OMIM:276820) characterised by limb defects due to hypo- or aplasia of one or more long bones; pelvic defects with hip dislocation, hypoplastic iliac bone and aplastic pubic bones; and variable thoracic deformity, unusual facies and genitourinary anomalies.

Molecular pathology
Defects in WNT7A, which encodes a signalling molecule for müllerian duct development, cause limb/pelvis-hypoplasia/aplasia syndrome.