Syndactyly type 5

Alternate names

Syndactyly with associated metacarpal and metatarsal fusion

Definition

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

Epidemiology

So far, less than ten reports have been described in the literature.

Cause

• The locus associated with SD5 maps to 2q31-q32.
• Mutations in the HOXD13 gene may be causative.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The condition is inherited as an autosomal dominant trait.

Signs and symptoms

Soft tissue syndactyly (involving the 3rd and 4th fingers and the 2nd and 3rd toes) may be present.

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

• Metacarpal synostosis(Fused long bones of hand)
• Metatarsal synostosis(Fusion of the long bones of the feet)
• Short distal phalanx of finger(Short outermost finger bone)
• Ulnar deviation of finger(Finger bends toward pinky)

30%-79% of people have these symptoms

• 2-3 toe syndactyly(Webbed 2nd and 3rd toes)
• 3-4 finger syndactyl(Webbed 3rd-4th fingers)
• [Camptodactyly]] of finger(Permanent flexion of the finger)

5%-29% of people have these symptoms

• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)

Diagnosis

An infant with webbing may have other symptoms that together may be signs of one syndrome or condition. That condition is diagnosed based on a family history, medical history, and physical exam.

The following tests may be done:

• Chromosome studies
• Lab tests to check for certain proteins (enzymes) and metabolic problems
• X-rays

Treatment

Surgery may be done to separate the fingers or toes.

NIH genetic and rare disease info

• NIH info on Syndactyly type 5

Syndactyly type 5 is a rare disease.

Syndactyly type 5 Resources
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