Aniridia absent patella

Aniridia absent patella is a rare genetic disorder characterized by the absence of the patella (kneecap) and aniridia (absence of the iris in the eye). This condition is also known as Small Patella Syndrome or SPS.

Symptoms and Signs

The primary symptoms of Aniridia absent patella include the absence or underdevelopment of the patella and aniridia. Other symptoms may include glaucoma, cataract, nystagmus (involuntary eye movement), and strabismus (misalignment of the eyes). Some individuals may also have intellectual disability and growth retardation.

Causes

Aniridia absent patella is caused by mutations in the TBX4 gene. This gene provides instructions for making a protein that is involved in the development of the limbs and lungs. The mutation disrupts the normal development of these structures, leading to the characteristic features of this disorder.

Diagnosis

Diagnosis of Aniridia absent patella is based on the clinical features, including the absence of the patella and aniridia. Genetic testing can confirm the diagnosis by identifying a mutation in the TBX4 gene.

Treatment

There is currently no cure for Aniridia absent patella. Treatment is symptomatic and supportive, and may include physical therapy for mobility issues and surgery to correct eye problems.

Prognosis

The prognosis for individuals with Aniridia absent patella varies. Some individuals may have normal intelligence and lead relatively normal lives, while others may have severe intellectual disability and physical limitations.

See Also

• Genetic disorder
• Rare disease
• Aniridia
• Patella