Potocki-Shaffer syndrome
Synonyms: 11p11.2 deletion | Proximal 11p deletion syndrome
A rare partial autosomal monosomy characterized by global developmental delay intellectual disability multiple cartilaginous exostoses and craniofacial anomalies (such as brachycephaly biparietal foramina large fontanels craniosynostosis ptosis epicanthic folds prominent nasal bridge with broad depressed nasal tip hypoplastic nares short philtrum downturned upper lip and micrognathia). Additional reported features include behavioral abnormalities myopia strabismus and sensorineural hearing loss among others.
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
Potocki-Shaffer syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
International Wagr Syndrome Association
to promote awareness, stimulate research, and support families affected by WAGR syndrome
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.