thumb stiffness-brachydactyly-intellectual disability syndrome
Findings
No curated finding names thumb stiffness-brachydactyly-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
Definition from the Mondo Disease Ontology (MONDO:0008563), read 2026-09-29. CC BY 4.0.
Features
6 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 metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Type A brachydactylyHPOHP:0009370
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: thumb stiffness-brachydactyly-intellectual disability syndrome
- Also called
- Piussan-Lenaerts-Mathieu syndrome