Czech dysplasia

Alternate names

• Czech dysplasia, metatarsal type
• progressive pseudorheumatoid dysplasia with hypoplastic toes
• SED with metatarsal shortening
• spondyloarthropathy with short third and fourth toes
• spondyloepiphyseal dysplasia with metatarsal shortening

Definition

Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood.

Epidemiology

The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic.

Cause

• Czech dysplasia is caused by a particular mutation in the COL2A1 gene.
• The COL2A1 gene provides instructions for making a protein that forms type II collagen.
• This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage.
• Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development.
• Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.
• Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.
• Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder.

All known individuals with Czech dysplasia inherited the mutation from a parent with the condition.

Signs and symptoms

• People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood.
• The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility.
• People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long.
• Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis).
• Some people with Czech dysplasia have progressive hearing loss.

Diagnosis

• Disorder is suspected based on family history and clinical presentation, but this may be difficult to detect in early childhood.
• Skeletal radiographs showing platyspondyly and shortened metatarsals and metacarpals may be helpful in the diagnosis work up.
• Diagnosis is confirmed by genetic testing for the R275C mutation in COL2A1.

Differential diagnosis

• Disorders with early-onset osteoarthritis and polyarticular arthritis form the main differential diagnoses and include juvenile idiopathic osteoarthritis and mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis.
• Whilst COL2A1 mutations are involved in a spectrum of skeletal dysplasias, this specific disorder is typically distinguished by the absence of cleft palate, ophthalmologic pathology and short stature.

Treatment

• Treatment is symptomatic and frequently includes hip replacement (often by the age of 40), hearing aids for hearing loss, and anti-rheumatic medication for osteoarthritis.
• Appropriate surveillance of hearing loss and progression of osteoarthritis is required.

Prognosis

The disorder is associated with early-onset, progressive arthritis that is typically associated with significant joint pain and restricted mobility that can adversely impact quality of life. Early joint replacements are often recommended. Longevity does not appear to be different to that of the general population.

NIH genetic and rare disease info

• NIH info on Czech dysplasia

Czech dysplasia is a rare disease.

Czech dysplasia Resources
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