Leri pleonosteosis
Findings
No curated finding names Leri pleonosteosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Definition from the Mondo Disease Ontology (MONDO:0007894), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Limitation of joint mobilityHPOHP:0001376
- 7 of 7 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 7 of 7 reported patients
- Short palpebral fissureHPOHP:0012745
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: Leri pleonosteosis
- Also called
- leri pleonosteosis chromosome duplication syndrome