Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

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Synonyms: KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia athelia or hypoplastic nipples branchial arch abnormalities external ear malformations hearing loss thyroid abnormalities delayed or absent pubertal development and short stature. Developmental delay / intellectual disability are variably 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 July 2024

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Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature 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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