acroosteolysis-keloid-like lesions-premature aging syndrome
MONDO:0011150Mondo
Findings
No curated finding names acroosteolysis-keloid-like lesions-premature aging 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
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
51 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.
- Osteolytic defects of the distal phalanges of the handHPOHP:0009839
- 4 of 4 reported patients
- Prematurely aged appearanceHPOHP:0007495
- 4 of 4 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 2 of 4 reported patients
- HypotelorismHPOHP:0000601
- 2 of 4 reported patients
- Posterior fossa cystHPOHP:0007291
- 2 of 4 reported patients
- Short palmHPOHP:0004279
- 2 of 4 reported patients
- Aplasia of the nasal boneHPOHP:0010941
- 1 of 4 reported patients
- Arachnoid cystHPOHP:0100702
- 1 of 4 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 4 reported patients
- Cervical ribsHPOHP:0000891
- 1 of 4 reported patients
- Convex nasal ridgeHPOHP:0000444
- 1 of 4 reported patients
- Corneal opacityHPOHP:0007957
- 1 of 4 reported patients
Show the remaining 39
- Corneal stromal edemaHPOHP:0012040
- 1 of 4 reported patients
- Delayed eruption of teethHPOHP:0000684
- 1 of 4 reported patients
- Dermal atrophyHPOHP:0004334
- 1 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 4 reported patients
- Flexion contracture of fingerHPOHP:0012785
- 1 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 4 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
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: acroosteolysis-keloid-like lesions-premature aging syndrome
- Also called
- premature ageing syndrome, Penttinen typepremature aging syndrome, Penttinen type