Conditions / Musculoskeletal
Desbuquois dysplasia
info · Musculoskeletal
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Signs and symptoms
- Hyperlordosis
- Round face
- Joint hypermobility
- Disproportionate short-limb short stature
- Malar flattening
- Microretrognathia
- Intrauterine growth retardation
- Growth delay
- Obesity
- Severe short stature
Also known as: Desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification