progeria-short stature-pigmented nevi syndrome
MONDO:0008311Mondo
Findings
No curated finding names progeria-short stature-pigmented nevi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.
Definition from the Mondo Disease Ontology (MONDO:0008311), read 2026-09-29. CC BY 4.0.
Features
56 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 muscle toneHPOHP:0003808
- Very frequent (80% to 99% of cases)
- Abnormal thalamus morphologyHPOHP:0010663
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Band keratopathyHPOHP:0000585
- Very frequent (80% to 99% of cases)
- Bifid uvulaHPOHP:0000193
- Very frequent (80% to 99% of cases)
- Bird-like faciesHPOHP:0000320
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Central sleep apneaHPOHP:0010536
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
Show the remaining 44
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Decreased total T cell countHPOHP:0005403
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Dental malocclusionHPOHP:0000689
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
Where it sits
- A kind of
Other names
1 name
Resolves to: progeria-short stature-pigmented nevi syndrome
- Also called
- Mulvihill-Smith Syndrome