Zechi-Ceide syndrome

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Synonyms: Occipital atretic cephalocele-unusual facies-large feet syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead narrow palpebral fissures midface deficiency narrow malformed ears broad nose and nasal root grooved nasal tip and columella laterally angulated hypoplastic nares short philtrum thin upper lip clift lip/palate severe oligodontia prominent chin) and large feet with sandal gap. Intellectual disability developmental delay and hypoplastic finger and toenails have also been reported.

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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Zechi-Ceide 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

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