Synonyms: Facial dysmorphism-intellectual disability-short stature-deafness syndrome | Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
A rare multiple congenital anomalies syndrome characterized by short stature distinctive facial dysmorphism brachydactyly stiff and thick skin muscular pseudohypertrophy restricted joint mobility hearing loss and variable intellectual disability. Cardiovascular and respiratory involvement are common.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.