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Boomerang dysplasia

Orpha number ORPHA1263
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.1
OMIM
UMLS
  • C0432201
MeSH
  • C536573
MedDRA -
SNOMED CT
  • 254054000

Summary

Boomerang dyplasia is a lethal syndrome with a major bone disorder that consists of short stature, short bowed rigid limbs with ossification defects and some absent bones (fibulae and radii) and characteristic facies (broad nasal root and hypoplasia of the nares and septum). Prenatal diagnosis is possible by ultrasonography.This syndrome is extremely rare as only 10 cases have been recorded so far. The etiology is unknown. Some cases have been described with added features belonging to another syndrome : type 1 atelosteogenesis. Hence, these two disorders seem to belong to the same pathological spectrum.


Last update: February 2005

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