Microcephaly with chorioretinopathy is an extremely rare condition characterized by an association of microcephaly with either a stable retinal dysplasia or a progressive retinal degeneration. The consistent association of these two conditions in affected members in a few families worldwide first suggested the existence of the condition as a separate genetic entity from isolated microcephaly. Affected patients have mild to severe mental retardation, and hypopigmented retinal lesions that may resemble those of TORCH or Aicardi syndrome. Only a handful of affected families have been reported in medical literature.

Both autosomal recessive and dominant forms of microcephaly with chorioretinopathy are known. The recessive form is also known as chorioretinal dysplasia-microcephaly-mental retardation (CDMM) syndrome. No mutations in any of the MCP-related genes have been reported to date with this entity.