Preaxial polydactyly-colobomata-intellectual disability syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
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.
Also known as Pfeiffer-Mayer syndrome — per MONDO