Hutchinson-Gilford progeria syndrome
Findings
No curated finding names Hutchinson-Gilford progeria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Definition from the Mondo Disease Ontology (MONDO:0008310), read 2026-09-29. CC BY 4.0.
Features
94 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.
- Absence of subcutaneous fatHPOHP:0007485
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Generalized abnormality of skinHPOHP:0011354
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Premature skin wrinklingHPOHP:0100678
- Very frequent (80% to 99% of cases)
Show the remaining 82
- Abnormal aortic valve morphologyHPOHP:0001646
- Frequent (30% to 79% of cases)
- Abnormal mitral valve morphologyHPOHP:0001633
- Frequent (30% to 79% of cases)
- Abnormal nasal tip morphologyHPOHP:0000436
- Frequent (30% to 79% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Frequent (30% to 79% of cases)
- Alopecia totalisHPOHP:0007418
- Frequent (30% to 79% of cases)
- AnkyloglossiaHPOHP:0010296
- 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
Other names
4 names
Resolves to: Hutchinson-Gilford progeria syndrome
- Also called
- HGPSHutchinson-Gilford diseaseHutchinson-Gilford progeriapremature senility syndrome