Trisomy 9p
Synonyms: Duplication 9p | Duplication of the short arm of chromosome 9 | Trisomy of the short arm of chromosome 9
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Trisomy 9p?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.