Preaxial polydactyly-colobomata-intellectual disability syndrome

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Preaxial polydactyly-colobomata-intellectual disability syndrome

Synonyms: Pfeiffer-Mayer syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability growth retardation unilateral preaxial polydactyly and colobomatous anomalies (including coloboma of the iris optic nerve head choroid and retina). There have been no further descriptions in the literature since 1987.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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