Sillence syndrome
MONDO:0007227Mondo
Findings
No curated finding names Sillence syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
Definition from the Mondo Disease Ontology (MONDO:0007227), read 2026-09-29. CC BY 4.0.
Features
26 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.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- Very frequent (80% to 99% of cases)
- Aplasia of the middle phalanx of the handHPOHP:0010239
- Frequent (30% to 79% of cases)
- Flat acetabular roofHPOHP:0003180
- Frequent (30% to 79% of cases)
- Metatarsus adductusHPOHP:0001840
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Frequent (30% to 79% of cases)
- Abnormal distal phalanx morphology of fingerHPOHP:0009832
- Occasional (5% to 29% of cases)
- Abnormal morphology of the proximal phalanx of the halluxHPOHP:0010052
- Occasional (5% to 29% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Occasional (5% to 29% of cases)
- Abnormal proximal phalanx morphology of the handHPOHP:0009834
- Occasional (5% to 29% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Occasional (5% to 29% of cases)
Show the remaining 14
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
- Broad metatarsalHPOHP:0001783
- Occasional (5% to 29% of cases)
- Broad thumbHPOHP:0011304
- Occasional (5% to 29% of cases)
- Bulbous tips of toesHPOHP:0001782
- Occasional (5% to 29% of cases)
- CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
- Chess-pawn distal phalangesHPOHP:0006170
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Sillence syndrome
- Also called
- brachydactyly-symphalangism syndrome