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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
The diagnosis of Frank–Ter Haar syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
Frank–Ter Haar syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD