A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability obesity macrocephaly behavioral abnormalities (such as aggressive tantrums and autistic-like behavior) and delayed speech development. Dysmorphic facial features include large square forehead prominent supraorbital ridges broad nasal tip large ears prominent lower lip and minor dental anomalies such as small upper lateral incisors and central incisor gap.
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 May 2026
Newly diagnosed with
Clark-Baraitser syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.