geleophysic dysplasia
Findings
No curated finding names geleophysic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Definition from the Mondo Disease Ontology (MONDO:0000127), read 2026-09-29. CC BY 4.0.
Features
47 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.
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Airway obstructionHPOHP:0006536
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Elevated pulmonary artery pressureHPOHP:0004890
- Frequent (30% to 79% of cases)
- Increased size of nasopharyngeal adenoidsHPOHP:0040261
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Joint contractureHPOHP:0034392
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
Show the remaining 35
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- Phalangeal cone-shaped epiphysesHPOHP:0034281
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Recurrent ear infectionsHPOHP:0410018
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- Frequent (30% to 79% of cases)
- Short fetal femur lengthHPOHP:0011428
- 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
- A kind of
- Narrower terms (3)
Other names
1 name
Resolves to: geleophysic dysplasia
- Also called
- geleophysic dwarfism