limb/pelvis-hypoplasia/aplasia syndrome(redirected from Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome)
limb/pelvis-hypoplasia/aplasia syndromeA 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.
Defects in WNT7A, which encodes a signalling molecule for müllerian duct development, cause limb/pelvis-hypoplasia/aplasia syndrome.
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