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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.
ORPHA:228390Classification level: Disorder
- ALX4-related FNDAG
- Craniofrontonasal dysplasia with alopecia and hypogonadism
- Frontonasal dysplasia type 2
- Frontonasal dysplasia with alopecia and genital abnomality
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 613451
- UMLS: -
- MeSH: -
- GARD: 12641
- MedDRA: -
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.