Temple syndrome

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A rare genetic disease characterized by pre-and postnatal growth delay feeding difficulties muscular hypotonia motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism such as broad prominent forehead short nose with flat nasal root and wide tip downturned corners of mouth high-arched palate and micrognathia. Additonal features include childhood-onset central obesity premature puberty and variable bone abnormalities (e.g. small hands and feet dolichospondyly slender long bones and craniofacial disproportion).

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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Temple 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.