Frontonasal dysplasia-alopecia-genital anomalies syndrome

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Synonyms: ALX4-related FNDAG | Craniofrontonasal dysplasia with alopecia and hypogonadism | Frontonasal dysplasia type 2 | Frontonasal dysplasia with alopecia and genital abnomality

A rare genetic frontonasal dysplasia characterized by coronal craniosynostosis large skull defect with aplasia of ethmoid and nasal bones hypertelorism severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.

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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