Desbuquois dysplasia 2- MedGen UID:
- 862731
- •Concept ID:
- C4014294
- •
- Disease or Syndrome
Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014).
For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450).