Nicolaides-Baraitser syndrome

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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: // Data version September 2023.

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Nicolaides-Baraitser syndrome?

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Advocacy Organizations

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.