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.;
Origin ID : C535657;
UMLS CUI : C0796182;
Automatic exact mappings (from CISMeF team)
CISMeF manual mappings
Currated CISMeF NLP mapping
MeSH term(s) associated for indexing
ORDO relation(s)
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
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
---