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

• Osteochondrodysplatic Dwarfism-Deafness-Retinitis Pigmentosa Syndrome
• Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome

What is Dwarfism Deafness Retinitis Pigmentosa Syndrome? (Definition/Background Information)

• Dwarfism Deafness Retinitis Pigmentosa Syndrome, also known as Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome, is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa
• Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head
• It has been described in two patients. Transmission is autosomal dominant variable penetrance

(Source: Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Dwarfism Deafness Retinitis Pigmentosa Syndrome? (Age and Sex Distribution)

• Dwarfism Deafness Retinitis Pigmentosa Syndrome is an extremely rare congenital disorder. So far, only about 2 cases have been identified
• The presentation of symptoms may occur at or following birth of the child
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dwarfism Deafness Retinitis Pigmentosa Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Dwarfism Deafness Retinitis Pigmentosa Syndrome can be inherited

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 Dwarfism Deafness Retinitis Pigmentosa Syndrome? (Etiology)

• The exact underlying cause of Dwarfism Deafness Retinitis Pigmentosa Syndrome is currently unknown
• The disorder is inherited in an autosomal dominant manner, with variable penetrance

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

In autosomal dominant inheritance with incomplete penetrance and variable expression, an individual may not develop symptoms even when he/she is carrying a defective gene copy in each cell of his/her body. It is believed that factors other than gene mutation(s) contribute to the development of the disease.

What are the Signs and Symptoms of Dwarfism Deafness Retinitis Pigmentosa Syndrome?

The signs and symptoms of Dwarfism Deafness Retinitis Pigmentosa Syndrome may include:

• Severe dwarfism
• Progressive scoliosis 
• Bilateral dislocation of the hip
• Sensorineural deafness 
• Retinitis pigmentosa 
• Diffuse osteoporosis
• Severe bone age delay
• Dysplasia of femoral head

(Source: Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Dwarfism Deafness Retinitis Pigmentosa Syndrome Diagnosed?

Dwarfism Deafness Retinitis Pigmentosa Syndrome 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 Dwarfism Deafness Retinitis Pigmentosa Syndrome?

The complications of Dwarfism Deafness Retinitis Pigmentosa Syndrome may include:

• Difficulty with movement
• Bones prone to fracture
• Loss of vision
• Permanent loss of hearing

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

How is Dwarfism Deafness Retinitis Pigmentosa Syndrome Treated?

There is no cure for Dwarfism Deafness Retinitis Pigmentosa 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 Dwarfism Deafness Retinitis Pigmentosa Syndrome be Prevented?

Currently, Dwarfism Deafness Retinitis Pigmentosa Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• 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 Dwarfism Deafness Retinitis Pigmentosa Syndrome? (Outcomes/Resolutions)

• The prognosis of Dwarfism Deafness Retinitis Pigmentosa 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 Dwarfism Deafness Retinitis Pigmentosa Syndrome:

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

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