Trisomy 8p
Synonyms: Duplication 8p
Trisomy 8p is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay neonatal hypotonia short stature profound intellectual disability mild dysmorphic features (e.g. mild ptosis hypertelorism down-slanting palpebral fissures broad nasal bridge short prominent philtrum abnormal dentition) and structural brain abnormalities. Autism epilepsy and spastic paraplegia have also been reported.
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 May 2024
Newly diagnosed with
Trisomy 8p?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Project 8P Foundation
To empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
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.