20q11.2 microduplication syndrome
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome due to partial duplication of the long arm of chromosome 20 characterized by psychomotor and developmental delay moderate intellectual disability metopic ridging/trigonocephaly short hands and/or feet and distinctive facial features (epicanthus hypoplastic supraorbital ridges horizontal/downslanting palpebral fissures small nose with depressed nasal bridge and anteverted nostrils prominent cheeks retrognathia and small thick ears). Growth delay and cryptororchidism are often associated features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
20q11.2 microduplication syndrome?
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