fibrochondrogenesis
Findings
No curated finding names fibrochondrogenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016068), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal diaphysis morphologyHPOHP:0000940
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Wide anterior fontanelHPOHP:0000260
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)