Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. [ Orphanet:96101 ]
Synonyms: distal duplication 9q telomeric duplication 9q distal trisomy type 9q trisomy 9qter
Term information
- Orphanet:96101 (MONDO:equivalentTo)
- MEDGEN:1645202 (MONDO:equivalentTo)
- SCTID:764520001 (MONDO:equivalentTo)
- GARD:19316 (MONDO:GARD)
- UMLS:C4706939 (MONDO:equivalentTo)
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://linkedlifedata.com/resource/umls/id/C4706939
http://identifiers.org/snomedct/764520001
http://www.orpha.net/ORDO/Orphanet_96101
http://identifiers.org/medgen/1645202