Distal duplication 22q
Synonyms: Distal trisomy 22q | Telomeric duplication 22q | Trisomy 22qter
Distal trisomy 22q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay pre- and postnatal growth deficiency hypotonia and craniofacial dysmorphism (incl. microcephaly hypertelorism narrow and upslanted palpebral fissures epicanthic folds low-set dysplastic ears broad and depressed nasal bridge cleft lip an/or palate long philtrum retro/micrognathia). Congenital heart defects as well as cerebral skeletal renal and genital anomalies have also 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 April 2024
Newly diagnosed with
Distal duplication 22q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Chromosome 22 Central
To spread awareness and offer support and information on all chromosome 22 disorders.
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
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.