preaxial polydactyly-colobomata-intellectual disability syndrome

Rare Disease

MONDO:0017377

Also Known As

Pfeiffer-Mayer syndromePfeiffer Mayer syndromeshort stature intellectual disability type I preaxial polydactyly with colobomatous abnormalitiesshort stature mental retardation type I preaxial polydactyly with colobomatous abnormalities

Definition

Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.