Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

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A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis frontal bossing downslanting palpebral fissures large and low-set ears depressed nasal bridge high-arched wide palate thin upper lip) impaired neurological development with intellectual disability hypotonia pyloric stenosis pectus excavatum bilateral cryptorchidism and short stature.

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 Data version July 2024

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Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism 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.