Telecanthus-hypertelorism-strabismus-pes cavus syndrome

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Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus hypertelorism strabismus pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias bilateral inguinal hernia clinodactyly and camptodactyly of the fingers and radiographic findings including flared metaphyses of the long bones and osteopenia.

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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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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