autosomal dominant omodysplasia
MONDO:0008123Mondo
Findings
No curated finding names autosomal dominant omodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of omodysplasia.
Definition from the Mondo Disease Ontology (MONDO:0008123), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 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.
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Rhizomelic arm shorteningHPOHP:0004991
- 2 of 2 reported patients
- Short humerusHPOHP:0005792
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
- Anterior wedging of T11HPOHP:0004573
- 1 of 2 reported patients
- Bilateral cleft lipHPOHP:0100336
- 1 of 2 reported patients
- Broad femoral neckHPOHP:0006429
- 1 of 2 reported patients
- Cleft palateHPOHP:0000175
- 1 of 2 reported patients
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.
- FZD2HGNC:4040
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: autosomal dominant omodysplasia
- Also called
- omodysplasia, autosomal dominant