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 disability 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. [ Orphanet:96109 ]
Synonyms: telomeric duplication 22q distal duplication 22q trisomy 22qter distal trisomy type 22q
Term information
- SCTID:764512003 (MONDO:equivalentTo)
- GARD:19322 (MONDO:GARD)
- MEDGEN:1642344 (MONDO:equivalentTo)
- UMLS:C4706936 (MONDO:equivalentTo)
- Orphanet:96109 (MONDO:equivalentTo)
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://identifiers.org/snomedct/764512003
http://www.orpha.net/ORDO/Orphanet_96109
http://linkedlifedata.com/resource/umls/id/C4706936
http://identifiers.org/medgen/1642344