Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

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Synonyms: CHOPS syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability short stature skeletal abnormalities (such as brachydactyly and vertebral anomalies) obesity cardiac respiratory and genitourinary anomalies and dysmorphic facial features (including coarse facies thick eyebrows synophrys hypertelorism short upturned nose and long philtrum). Additional reported manifestations are microcephaly hearing impairment cataract and gastroesophageal reflux.

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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Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome?

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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

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