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Desbuquois syndrome

Orpha number ORPHA1425
Synonym(s) Desbuquois dysplasia
Prevalence <1 / 1 000 000
  • Autosomal recessive
Age of onset Neonatal/infancy
  • Q78.8
  • C0432242
  • C535943
MedDRA -
  • 254099008


Desbuquois syndrome is a rare osteochondrodysplasia first described by Desbuquois in 1966. Clinical characteristics include short stature of prenatal onset with rhizomelic and mesomelic shortness, marked joint laxity, kyphoscoliosis and characteristic facial dysmorphism. The disease is clinically heterogeneous with variable severity. It is transmitted as an autosomal recessive trait. For a subgroup of patients presenting with typical hand abnormalities only, a causative gene for the disease has been mapped to chromosome 17q25.3. Radiologically the disease is characterized by a Swedish key or monkey wrench appearance of the femoral heads and advanced carpal bone age. Radial deviation of the second finger with a supernumerary ossicle at the base of the second phalanx is a radiological hallmark of this condition but is not essential for diagnosis. The main differential diagnosis is the Réunion Island form of Larsen syndrome.

Expert reviewer(s)

  • Pr Valérie CORMIER-DAIRE
  • Pr Laurence FAIVRE-OLIVIER

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Detailed information

Review article
  • EN (2005,pdf)
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