osteoglophonic dysplasia
Findings
No curated finding names osteoglophonic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
Definition from the Mondo Disease Ontology (MONDO:0008150), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood 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.
- CraniosynostosisHPOHP:0001363
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- 5 of 5 reported patients
- Severe short statureHPOHP:0003510
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 6 of 7 reported patients
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 4 of 5 reported patients
Show the remaining 26
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- 3 of 5 reported patients
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- 3 of 5 reported patients
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- RhizomeliaHPOHP:0008905
- 2 of 7 reported patients
- Frequent (30% to 79% 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.
- FGFR1HGNC:3688
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: osteoglophonic dysplasia
- Also called
- FGFR1-related osteoglophonic dysplasiaOGDosteoglophonic dwarfism