Acromelic frontonasal dysplasia

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Synonyms: AFND | Acromelic frontonasal dysostosis | Toriello syndrome

A rare 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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