Frontonasal dysplasia-alopecia-genital anomalies syndrome

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Name:
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Description:
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.
ORPHAcode:
228390
Synonyms:
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14