SADDAN

Also known as Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans, severe achondroplasia with developmental delay and acanthosis nigricans, ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN, SADDAN dysplasia, ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS

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