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fibrochondrogenesis

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0016068:  fibrochondrogenesis
GARD:0002321: 
MESH:C562524: 
OMIMPS:228520: 
Orphanet:2021: 
SCTID:17144009: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)