Congenital limbs-face contractures-hypotonia-developmental delay syndrome

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Synonyms: CLIFAHDD syndrome

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face hypotonia neonatal respiratory distress and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures broad nasal bridge large nares long philtrum and deep nasolabial folds among others. Limb deformities (camptodactyly clubfoot) short neck scoliosis as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.

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 June 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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