Spondylocamptodactyly

Alternate names

Camptodactyly with cervical platyspondyly; Spondylo camptodactyly syndrome

Definition

Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.

Epidemiology

This syndrome has been described in five members from three generations of one family.

Inheritance

Inhertitance is thought to be autosomal dominant or autosomal recessive with pseudodominance.

Clinical presentation

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

• Camptodactyly of finger(Permanent flexion of the finger)
• Platyspondyly(Flattened vertebrae)
• Scoliosis

NIH genetic and rare disease info

• NIH info on Spondylocamptodactyly

Spondylocamptodactyly is a rare disease.

Resources

Frequently asked questions

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