/severe achondroplasia-developmental delay-acanthosis nigricans syndrome

severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Rare Disease

MONDO:0014658

Also Known As

SADDANSADDAN dysplasiasevere achondroplasia with developmental delay and acanthosis nigricansachondroplasia, severe, with developmental delay and acanthosis nigricans

Definition

A syndrome characterized 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).