Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. [ Orphanet:96071 ]
Synonyms: telomeric duplication 3p trisomy 3pter distal duplication 3p distal trisomy type 3p
Term information
- SCTID:764519007 (MONDO:equivalentTo)
- UMLS:C4706938 (MONDO:equivalentTo)
- GARD:19305 (MONDO:GARD)
- MEDGEN:1637379 (MONDO:equivalentTo)
- Orphanet:96071 (MONDO:equivalentTo)
gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://identifiers.org/snomedct/764519007
http://www.orpha.net/ORDO/Orphanet_96071
http://linkedlifedata.com/resource/umls/id/C4706938
http://identifiers.org/medgen/1637379