autosomal recessive omodysplasia
MONDO:0009779Mondo
Findings
No curated finding names autosomal recessive omodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive form of omodysplasia.
Definition from the Mondo Disease Ontology (MONDO:0009779), read 2026-09-29. CC BY 4.0.
Features
24 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 metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal morphology of the radiusHPOHP:0002818
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Hypoplastic distal humeriHPOHP:0005025
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Abnormal femur morphologyHPOHP:0002823
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- MesomeliaHPOHP:0003027
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- MicromeliaHPOHP:0002983
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- HGNC:4454HGNC:4454
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive omodysplasia
- Also called
- micromelic dysplasia-dislocation of radius syndromeomodysplasia type 1omodysplasia, autosomal recessive