Intellectual disability-brachydactyly-Pierre Robin syndrome

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Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris short palpebral fissures hypertelorism small low-set and posteriorly angulated ears bulbous nose long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly clinodactyly small hands and feet and oral manifestations (e.g. bifid short tongue oligodontia) are also associated. Additional features reported include microcephaly capillary hemangiomas on face and scalp ventricular septal defect corneal clouding nystagmus and profound sensorineural deafness.

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 July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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