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Definition

An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes.

Acronym

CPCMR

Synonyms

Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Keywords

Mental retardation