Trisomy 9p

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.

Also known as: 9p duplication, 9p trisomy, Duplication 9p, Duplication of the short arm of chromosome 9, chromosome 9p duplication, partial duplication of chromosome 9p, partial duplication of the short arm of chromosome 9, partial trisomy 9p

2 clinical trials for this condition and its sub-types.