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Opsismodysplasia

Orpha number ORPHA2746
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q78.8
ICD-O -
OMIM
UMLS
  • C0432219
MeSH
  • C537122
MedDRA -

Summary

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. Twenty five cases (16 males and 9 females) have been reported in the literature so far. The disorder is evident at birth. The facial dysmorphism includes macrocephaly, prominent brow, large fontanels, depressed nasal bridge, a small nose, anteverted nares and a long philtrum, hypertelorism, and exophthalmos. Additional features include a short neck, narrow thorax, predominantly rhizomelic micromelia with very short long bones, short feet and hands, muscular hypotonia, severe platyspondyly, marked delay of bone maturation, and increased susceptibility to respiratory infections. Etiology remains unknown. Autosomal recessive transmission has been suggested.

Expert reviewer(s)

  • Dr Martine LE MERRER

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