Acromelic frontonasal dysplasia
From BugSigDB
Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
- Aliases
- acromelic frontonasal dysostosis
- acromelic frontonasal dysostosis
- acromelic frontonasal dysplasia
- AFND
- frontonasal dysplasia acromelic
- Toriello syndrome
