achondroplasia

Introduction

Disease of cartilage & endochondral bone growth.

Genetics

• autosomal dominant
• may be caused by mutations in the FGFR3 gene

Clinical manifestations

• congenital dwarfism
• recessed nasal bridge
• large head with bulging forehead
• normal trunk
• dorsal kyphosis
• backward-tilting sacrum
• mildly distended abdomen
• short muscular extremities, especially in the proximal segments
• stubby hands
• thick fingers

Radiology

• short, bowed, wide bones with increased bone density
• expanded bone ends
• cupping of metaphyses
• incomplete glenoid fossa & acetabulum
• wide joint spaces

Management

• vosoritide (Voxzogo) FDA-approved for treatment of achrondroplasia in children >= 2 years whose epiphyses have not yet closed

More general terms

• osteochondrodysplasia

Additional terms

• hypochondroplasia

Database

• OMIM: https://mirror.omim.org/entry/100800