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Fibrochondrogenesis

Orpha number ORPHA2021
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q77.7
ICD-O -
OMIM
UMLS
  • C0265282
MeSH -
MedDRA -
SNOMED CT
  • 17144009

Summary

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Expert reviewer(s)

  • Pr Lihadh AL-GAZALI

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