Sillence syndrome

Alternate names

Brachydactyly-distal symphalangism syndrome

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.

Epidemiology

The syndrome has been described in one family with five affected individuals from three successive generations.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission appears to be autosomal dominant.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Brachydactyly(Short fingers or toes)
• Pes cavus(High-arched foot)

30%-79% of people have these symptoms

• Aplasia of the middle phalanx of the hand(Absent middle bones of hand)
• Flat acetabular roof
• Metatarsus adductus(Front half of foot turns inward)
• Scoliosis
• Short middle phalanx of finger(Short middle bone of finger)

5%-29% of people have these symptoms

• Abnormal morphology of the proximal phalanx of the hallux(Abnormal innermost big toe bone)
• Abnormal proximal phalanx morphology of the hand(Abnormality of the innermost finger bones of the hand)
• Abnormality of the nail
• Back pain
• Broad metatarsal(Wide long bone of foot)
• Broad thumb(Broad thumbs)
• Bulbous tips of toes
• [[Camptodactyly](Permanent flexion of the finger or toe)
• Chess-pawn distal phalanges(Chess-pawn shaped outermost bone)
• Epicanthus(Eye folds)
• Intervertebral disc degeneration
• Large iliac wings
• Large tarsal bones(Large ankle bones)
• Oval face(Oval facial shape)
• [[Platyspondyly](Flattened vertebrae)
• Slender build(Thin build)

NIH genetic and rare disease info

• NIH info on Sillence syndrome

Sillence syndrome is a rare disease.

Resources

Frequently asked questions

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