Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

Epidemiology

Four cases have been described in two families.

Clinical description

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.

Etiology

A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families.

Genetic counseling

The condition is transmitted as an autosomal recessive trait.