Autosomal hereditary disorder
Chondrodysplasia
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Fibrochondrogenesis (disorder)
Fibrochondrogenesis
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.
fibrochondrogenese
Id17144009
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.9
RuleTRUE
AdviceALWAYS Q77.9
CorrelationSNOMED CT source code to target map code correlation not specified