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 2026
Newly diagnosed with
Nicolaides-Baraitser syndrome?
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Advocacy Organizations
NCBRS Worldwide Foundation
The NCBRS Worldwide Foundation is a nonprofit organisation that aims to support and educate families, carers and professionals who work with them. Together, we will work to promote awareness and understanding of the syndrome. We will advocate for scientific research that increases the medical knowledge of Nicolaides-Baraitser Syndrome and best treatments.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.