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Desbuquois syndrome

Orpha number ORPHA1425
Synonym(s) Desbuquois dysplasia
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q78.8
OMIM
UMLS
  • C0432242
MeSH
  • C535943
MedDRA -
SNOMED CT
  • 254099008

Summary

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.


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Detailed information

Review article
  • EN (2005,pdf)
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