FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00505 FGFR3-related short limb skeletal dysplasia
