Alopecia-mental retardation syndrome

Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.