×

Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

Aniridia Renal Agenesis Psychomotor Retardation Syndrome

Last updated April 21, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Aniridia Renal Agenesis Psychomotor Retardation Syndrome is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Aniridia Partial with Unilateral Renal Agenesis and Psychomotor Retardation
  • Sommer Rathbun Battles Syndrome

What is Aniridia Renal Agenesis Psychomotor Retardation Syndrome? (Definition/Background Information)

  • Aniridia Renal Agenesis Psychomotor Retardation Syndrome is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay
  • There have been no further descriptions in the literature since 1974

(Source: Aniridia Renal Agenesis Psychomotor Retardation; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Aniridia Renal Agenesis Psychomotor Retardation Syndrome? (Age and Sex Distribution)

  • Aniridia Renal Agenesis Psychomotor Retardation Syndrome is a rare congenital disorder. The presentation of symptoms may occur in childhood
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Aniridia Renal Agenesis Psychomotor Retardation Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Aniridia Renal Agenesis Psychomotor Retardation Syndrome is an inherited condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider

What are the Causes of Aniridia Renal Agenesis Psychomotor Retardation Syndrome? (Etiology)

  • The exact genetic cause of Aniridia Renal Agenesis Psychomotor Retardation Syndrome is not known at the present time
  • The disorder is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected)

What are the Signs and Symptoms of Aniridia Renal Agenesis Psychomotor Retardation Syndrome?

The symptoms of Aniridia Renal Agenesis Psychomotor Retardation Syndrome may vary between affected individuals, and may include the following:

Very frequently present symptoms in 80-99% of the cases:

  • Anteverted nares
  • Congenital glaucoma
  • Downturned corners of mouth
  • Frontal bossing
  • Mild global developmental delay
  • Partial aniridia
  • Strabismus
  • Telecanthus
  • Unilateral renal agenesis

Frequently present symptoms in 30-79% of the cases:

  • Communicating hydrocephalus 
  • Corneal opacity 
  • Micrognathia 
  • Muscular hypotonia

Other signs and symptoms include intellectual disability.

(Source: Aniridia Renal Agenesis Psychomotor Retardation; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Aniridia Renal Agenesis Psychomotor Retardation Syndrome Diagnosed?

Aniridia Renal Agenesis Psychomotor Retardation is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Aniridia Renal Agenesis Psychomotor Retardation Syndrome?

The complications of Aniridia Renal Agenesis Psychomotor Retardation Syndrome may include:

  • Impaired vision
  • Reduced urine production
  • Need for assistance in day-to-day life, depending on the degree of intellectual deficit

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Aniridia Renal Agenesis Psychomotor Retardation Syndrome Treated?

There is no cure for Aniridia Renal Agenesis Psychomotor Retardation Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops

How can Aniridia Renal Agenesis Psychomotor Retardation Syndrome be Prevented?

  • Currently, Aniridia Renal Agenesis Psychomotor Retardation Syndrome may not be preventable, since it is a genetic disorder
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Aniridia Renal Agenesis Psychomotor Retardation Syndrome? (Outcomes/Resolutions)

  • The prognosis of Aniridia Renal Agenesis Psychomotor Retardation Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Aniridia Renal Agenesis Psychomotor Retardation Syndrome:

  • Aniridia Renal Agenesis Psychomotor Retardation Syndrome was first described by three scientists, Sommer, Rathbun, and Battles, in 1974. The syndrome is named after them, and is hence also known as Sommer Rathbun Battles Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 21, 2018
Last updated: April 21, 2018