Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. [ Orphanet:96059 ]
Synonyms: trisomy 4 mosaicism Mosaic trisomy type 4 Mosaic trisomy chromosome 4
Term information
- Orphanet:96059 (MONDO:equivalentTo)
- MEDGEN:1637768 (MONDO:equivalentTo)
- SCTID:764628000 (MONDO:equivalentTo)
- UMLS:C4272018 (MONDO:equivalentTo)
- GARD:19300 (MONDO:GARD)
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://identifiers.org/medgen/1637768
http://www.orpha.net/ORDO/Orphanet_96059
http://identifiers.org/snomedct/764628000
http://linkedlifedata.com/resource/umls/id/C4272018