osteochondrodysplasia fibrochondrogenesis https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis https://www.malacards.org/card/fibrochondrogenesis icd11.foundation:1412541453 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. MEDGEN:82700 UMLS:C0265282 NANDO:2201016 GARD:0002321 SCTID:17144009 MONDO:0016068 MESH:C562524 DOID:0060465 OMIMPS:228520 Orphanet:2021