20q11.2 microdeletion syndrome

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20q11.2 microdeletion syndrome

Synonyms: Del(20)(q11.2) | Monosomy 20q11

A rare genetic syndromic intellectual disability characterized by psychomotor delay hypotonia feeding difficulties failure to thrive anomalies of the hands and feet (clinodactyly camptodactyly brachydactyly feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal heart and eye anomalies have been reported.

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 December 2023

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20q11.2 microdeletion syndrome?

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