Aniridia renal agenesis psychomotor retardation

Aniridia-renal agenesis-psychomotor retardation
Synonyms	Gillespie syndrome, Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Aniridia, renal agenesis, psychomotor retardation, intellectual disability, genitourinary anomalies
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	WAGR syndrome, Gillespie syndrome
Prevention	N/A
Treatment	Symptomatic treatment, supportive care
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Aniridia Renal Agenesis Psychomotor Retardation (ARP Syndrome)

Aniridia Renal Agenesis Psychomotor Retardation (often abbreviated as ARP syndrome) is a rare genetic condition characterized by the absence of the colored part of the eye (aniridia), absence of one or both kidneys (renal agenesis), and delayed physical and intellectual development (psychomotor retardation).

Clinical Features

• Aniridia: Absence or partial absence of the iris, leading to impaired vision and increased sensitivity to light.
• Renal agenesis: A congenital absence of one or both kidneys, which can lead to end-stage renal disease.
• Psychomotor retardation: Delay in acquiring motor skills and intellectual abilities.

Etiology

The exact cause of ARP syndrome is unknown, but it's believed to be genetic. Some researchers suggest it might result from mutations in certain genes vital for the development of the eyes, kidneys, and brain.

Diagnosis

The diagnosis is primarily clinical, based on the characteristic physical findings. Genetic testing can be done to identify mutations that might be associated with the condition.

Treatment and Management

Treatment is symptomatic:

• Aniridia may be managed with the use of protective eyewear.
• Individuals with a missing kidney may need monitoring or treatment for kidney-related issues.
• Early intervention and specialized educational programs can benefit those with developmental delays.

Prognosis

The prognosis largely depends on the severity of the kidney abnormalities and the presence of any other associated conditions.

Epidemiology

ARP syndrome is extremely rare, with only a few cases reported worldwide.

References

• Neuhaus C, Eisenberger T, Decker C, et al. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med. 2017;5(5):531-552.
• Haws RM, Baumal R, Feldman W, et al. Aniridia, genitourinary abnormalities, and mental retardation: a new syndrome? J Pediatr. 1985;107(3): 413-4.