Condition: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans


rs121913105 in FGFR3 gene and Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans PMID 10053006 1999 We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.

PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.