Monosomy 22

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Monosomy 22

Synonyms: Del(22) | Deletion 22

A rare autosomal anomaly syndrome with a highly variable phenotype typically characterized by short length joint abnormalities (e.g. dysplasia hyperextensibility contractures dislocation) congenital cardiac defects and craniofacial dysmorphism (incl. microcephaly a high prominent narrow and/or hairy forehead epicanthus upward-slanting and/or small palpebral fissures broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.

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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Monosomy 22?

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