Preferred Label : acromelic frontonasal dysplasia;

Définition CISMeF : 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.;

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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.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1827
2014
false
true
false
France
scientific and technical information
acromelic frontonasal dysplasia
syndrome
acromelic frontonasal dysostosis
acromelic frontonasal dysostosis

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79347
2011
France
scientific and technical information
chondrodysplasia punctata
acromelic frontonasal dysplasia
chondrodysplasia punctata syndrome
Genee-Wiedemann syndrome
chondrodysplasia punctata syndrome

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29/04/2025


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