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severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Disease Summary
Associated Targets (1)
Tclin

1


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Mondo Description Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
Uniprot Description A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases.
Disease Ontology Description An autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
Mondo Term and Equivalent IDs
MONDO:0014658:  severe achondroplasia-developmental delay-acanthosis nigricans syndrome
DOID:0111158: SADDAN
GARD:0009443: 
Orphanet:85165: 
SCTID:699870002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)