Cortical blindness-intellectual disability-polydactyly syndrome

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Cortical blindness-intellectual disability-polydactyly syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital total cortical blindness intellectual disability postaxial polydactyly of the hands and feet pre- and postnatal growth delay psychomotor developmental retardation and mild facial dysmorphism (incl. prominent forehead short nose long philtrum high-arched palate and microretrognathia). Recurrent respiratory and intestinal infections as well as moderate hypertonia and hyperreflexia are also associated. There have been no further descriptions in the literature since 1985.

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://www.orphadata.org. Data version February 2024

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