frontometaphyseal dysplasia 2
Findings
No curated finding names frontometaphyseal dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014935), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Dislocated radial headHPOHP:0003083
- 18 of 18 reported patients
- Elbow contractureHPOHP:0034391
- 18 of 18 reported patients
- HypertelorismHPOHP:0000316
- 18 of 18 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 18 of 18 reported patients
- Wide nasal bridgeHPOHP:0000431
- 18 of 18 reported patients
- Broad thumbHPOHP:0011304
- 15 of 16 reported patients
- Sensorineural hearing impairmentHPO
Show the remaining 6
- KeloidsHPOHP:0010562
- 8 of 18 reported patients
- StridorHPOHP:0010307
- 6 of 15 reported patients
- Subglottic stenosisHPOHP:0001607
- 6 of 15 reported patients
- Bifid uvulaHPOHP:0000193
- 5 of 17 reported patients · Congenital onset
- Cleft palateHPOHP:0000175
- 5 of 17 reported patients · Congenital onset
- Mild intellectual disabilityHPOHP:0001256
- 4 of 18 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.
- MAP3K7HGNC:6859
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: frontometaphyseal dysplasia 2
- Also called
- FMD2frontometaphyseal dysplasia 2; FMD2frontometaphyseal dysplasia caused by mutation in MAP3K7Frontometaphyseal dysplasia type 2MAP3K7 frontometaphyseal dysplasia