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: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Monosomy 22?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.