Frontonasal dysplasia-alopecia-genital anomalies syndrome

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Frontonasal dysplasia-alopecia-genital anomalies syndrome

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: // Data version October 2023.

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