Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. [ Orphanet:96096 ]
Synonyms: telomeric duplication 4q distal duplication 4q trisomy 4qter distal trisomy type 4q
Term information
- UMLS:C4706362 (MONDO:equivalentTo)
- MEDGEN:1633392 (MONDO:equivalentTo)
- GARD:19312 (MONDO:GARD)
- Orphanet:96096 (MONDO:equivalentTo)
- SCTID:763273008 (MONDO:equivalentTo)
gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://identifiers.org/snomedct/763273008
http://identifiers.org/medgen/1633392
http://www.orpha.net/ORDO/Orphanet_96096
http://linkedlifedata.com/resource/umls/id/C4706362