SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/725029001
http://purl.bioontology.org/ontology/SNOMEDCT/725029001
Preferred Name

Frontonasal dysplasia with alopecia and genital anomaly syndrome

Definitions
A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait.
Synonyms
ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia with alopecia and genital abnomality
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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