frontometaphyseal dysplasia
Findings
No curated finding names frontometaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0015942), read 2026-09-29. CC BY 4.0.
Features
62 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Joint contracture of the handHPOHP:0009473
- Very frequent (80% to 99% of cases)
- Long fingersHPOHP:0100807
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short phalanx of fingerHPOHP:0009803
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
Show the remaining 50
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Dislocated radial headHPOHP:0003083
- 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
- Narrower terms (2)