Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of 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 has been reported.
|DHD Diagnosis thesaurus reference set|
|RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set|
|Term||Osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom, niet gespecificeerd|
|SNOMED CT to Orphanet simple map||2021|
|SNOMED CT to ICD-10 extended map|
|Correlation||SNOMED CT source code to target map code correlation not specified|