Synonyms: Intellectual disability-sparse hair-brachydactyly syndrome
A rare genetic syndromic intellectual disability characterized by short stature sparse hair characteristic coarse face brachydactyly with prominent interphalangeal joints seizures and intellectual disability. Facial characteristics include triangular shaped face dense and prominent eyelashes rounded premaxilla broad nasal base thick alae nasi upturned nasal tip broad philtrum thin upper vermilion thick and everted lower vermilion and wide mouth.
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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NCBRS Worldwide Foundation
The NCBRS Worldwide Foundation is a nonprofit organisation that supports and educates families, carers and professionals who work with people diagnosed with Nicolaides-Baraitser Syndrome. Together we work to promote awareness and understanding of the syndrome. We advocate for scientific research that increases the medical knowledge of NCBRS and best treatments.
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.