Orphanet: Fibrochondrogenesis

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Fibrochondrogenesis

Disease definition

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.

ORPHA:2021

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Autosomal recessive
Age of onset: Neonatal
ICD-10: Q77.7
OMIM: 228520 614524
UMLS: C0265282
MeSH: -
GARD: 2321
MedDRA: -

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Fibrochondrogenesis

ORPHA:2021

A summary on this disease is available in Deutsch (2003) Français (2005) Italiano (2005) Nederlands (2005)

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