8p inverted duplication/deletion syndrome
Synonyms: Invdupdel(8p) | Inverted 8p duplication/deletion syndrome
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability severe developmental delay (psychomotor and speech development) hypotonia with tendency to later develop progressive hypertonia and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%) skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%) and congenital heart defects (25%).
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 April 2024
Newly diagnosed with
8p inverted duplication/deletion syndrome?
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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
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