Frank–Ter Haar syndrome

Frank–Ter Haar syndrome is a rare genetic disorder characterized by skeletal, cardiovascular, and eye abnormalities. It is caused by mutations in the SH3PXD2B gene.

Symptoms and Signs

The symptoms of Frank–Ter Haar syndrome can vary, but they often include:

• Skeletal abnormalities such as macrocephaly (large head size), wide fontanel (soft spot on the top of the head), protruding eyes, short stature, and scoliosis (curvature of the spine).
• Cardiovascular abnormalities including heart defects and hypertension (high blood pressure).
• Eye abnormalities like glaucoma and myopia (nearsightedness).

Causes

Frank–Ter Haar syndrome is caused by mutations in the SH3PXD2B gene. This gene provides instructions for making a protein that is involved in the formation of bone and cartilage and the development of the heart and eyes.

Diagnosis

The diagnosis of Frank–Ter Haar syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Frank–Ter Haar syndrome is symptomatic and supportive. It may include surgery to correct skeletal abnormalities, medication to manage cardiovascular problems, and eye care to address vision issues.

Prognosis

The prognosis for individuals with Frank–Ter Haar syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications.

See Also

• Genetic disorders
• Skeletal disorders
• Cardiovascular disorders
• Eye disorders

References

Frank–Ter Haar syndrome Resources
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