Aniridia ataxia renal agenesis psychomotor retardation

Aniridia Ataxia Renal Agenesis Psychomotor Retardation (AARPR) is a rare genetic disorder characterized by the absence of the iris (aniridia), lack of coordination and balance (ataxia), absence of one or both kidneys (renal agenesis), and delayed development in motor skills (psychomotor retardation).

Aniridia

Aniridia is a condition characterized by the partial or complete absence of the iris, the colored part of the eye. This condition can cause various vision problems, including reduced sharpness (visual acuity), increased sensitivity to light (photophobia), and involuntary eye movements (nystagmus).

Ataxia

Ataxia refers to a group of disorders that affect coordination, balance, and speech. It is often caused by damage to the cerebellum, the part of the brain that controls muscle coordination. Symptoms can include poor coordination, unsteady walk and a tendency to stumble, difficulty with fine motor tasks, speech difficulties, and involuntary back-and-forth eye movements.

Renal Agenesis

Renal agenesis is a medical condition in which one or both of the kidneys fail to develop during gestation. This condition can lead to various health problems, including high blood pressure, urinary tract infections, and kidney failure.

Psychomotor Retardation

Psychomotor retardation is a condition characterized by slowed thought and a reduction of physical movements. It is commonly seen in people with major depressive disorder and other mood disorders. Symptoms can include slowed thought processes, reduced physical movements, and difficulty with tasks that require coordination.

Treatment

Treatment for AARPR is symptomatic and supportive. This may include visual aids for aniridia, physical and occupational therapy for ataxia and psychomotor retardation, and dialysis or kidney transplant for renal agenesis.

See Also

• Genetic disorder
• Rare disease
• Developmental disorder