ocular pterygium-digital keloid dysplasia syndrome
MONDO:0976136Mondo
Findings
No curated finding names ocular pterygium-digital keloid dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Corneal pterygiumHPOHP:0034363
- 3 of 3 reported patients
- FibromaHPOHP:0010614
- 3 of 3 reported patients
- KeloidsHPOHP:0010562
- 3 of 3 reported patients
- Abnormal external nose morphologyHPOHP:0010938
- 0 of 3 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 3 reported patients
- Abnormal maxilla morphologyHPOHP:0000326
- 0 of 3 reported patients
- Abnormal nasal bridge morphologyHPOHP:0000422
- 0 of 3 reported patients
- Abnormality of body heightHPOHP:0000002
- 0 of 3 reported patients
- CamptodactylyHPOHP:0012385
- 0 of 3 reported patients
- Dermal translucencyHPOHP:0010648
- 0 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 3 reported patients
- KyphosisHPOHP:0002808
- 0 of 3 reported patients
Show the remaining 4
- LipodystrophyHPOHP:0009125
- 0 of 3 reported patients
- OsteolysisHPOHP:0002797
- 0 of 3 reported patients
- Short digitHPOHP:0011927
- 0 of 3 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 0 of 3 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.
- PDGFRBHGNC:8804
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of