Angel-shaped phalango-epiphyseal dysplasia

Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a rare genetic disorder that primarily affects the development of the bones and joints. This condition is characterized by abnormalities in the bones of the hands and feet, and often results in short stature.

Characteristics

The most distinctive feature of ASPED is the presence of angel-shaped phalanges, which are the bones in the fingers and toes. This abnormal shape is due to the underdevelopment of the epiphyses, which are the ends of the long bones. Other common features of this condition include joint pain, limited range of motion, and early-onset osteoarthritis.

Genetics

ASPED is caused by mutations in the TRPV4 gene. This gene provides instructions for making a protein that plays a key role in the formation of bone and cartilage. Mutations in the TRPV4 gene disrupt this process, leading to the skeletal abnormalities seen in ASPED.

Diagnosis

Diagnosis of ASPED is based on the characteristic physical features and confirmed by genetic testing for mutations in the TRPV4 gene. Radiographic imaging may also be used to visualize the angel-shaped phalanges and other skeletal abnormalities.

Treatment

There is currently no cure for ASPED. Treatment is symptomatic and supportive, and may include physical therapy to improve joint mobility and pain management. In some cases, surgery may be necessary to correct skeletal deformities.

See also

• Epiphyseal dysplasia
• TRPV4
• Genetic disorder

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