Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). [ Orphanet:96100 ]
Synonyms: trisomy 8qter distal duplication 8q telomeric duplication 8q distal trisomy type 8q
Term information
- GARD:19315 (MONDO:GARD)
- MEDGEN:1637956 (MONDO:equivalentTo)
- UMLS:C4706365 (MONDO:equivalentTo)
- SCTID:763277009 (MONDO:equivalentTo)
- Orphanet:96100 (MONDO:equivalentTo)
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://linkedlifedata.com/resource/umls/id/C4706365
http://identifiers.org/medgen/1637956
http://identifiers.org/snomedct/763277009
http://www.orpha.net/ORDO/Orphanet_96100