Orphanet: Cortical blindness intellectual disability polydactyly syndrome

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Cortical blindness-intellectual disability-polydactyly syndrome

Disease definition

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.

ORPHA:1389

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Antenatal, Neonatal
ICD-10: Q87.8
OMIM: 218010
UMLS: C4517339
MeSH: -
GARD: -
MedDRA: -

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Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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