Nicolaides-Baraitser syndrome
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.
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
Nicolaides-Baraitser syndrome?
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
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.
Moonshots for Unicorns
Curing single-gene disorders
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.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.