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

• Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
• Nerve Type Deafness with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy

What is Groll Hirschowitz Syndrome? (Definition/Background Information)

• Groll Hirschowitz Syndrome, also known as Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome, is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)
• This syndrome is transmitted as an autosomal recessive trait

(Source: Deafness-small bowel diverticulosis-neuropathy syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Groll Hirschowitz Syndrome? (Age and Sex Distribution)

• Groll Hirschowitz Syndrome is a very rare congenital disorder that has been described in fewer than 10 individuals
• The presentation of symptoms may occur in childhood
• Both males and females may be affected

What are the Risk Factors for Groll Hirschowitz Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Groll Hirschowitz Syndrome can be inherited
• Children born to consanguineous parents may bear an increased risk of this disorder

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 Groll Hirschowitz Syndrome? (Etiology)

• The gene mutation that causes Groll Hirschowitz Syndrome is not known at the present time
• The condition is reportedly inherited in an autosomal recessive manner

Autosomal recessive inheritance: 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 Groll Hirschowitz Syndrome?

The signs and symptoms of Groll Hirschowitz Syndrome may include:

• Fat malabsorption
• Hypoproteinemia
• Jejunoileal ulceration
• Peripheral neuropathy
• Sensorineural hearing impairment
• Small bowel diverticula
• Tachycardia

(Source: Groll Hirschowitz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Groll Hirschowitz Syndrome Diagnosed?

Groll Hirschowitz 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
• Peripheral nerve biopsy, which may reveal demyelinization

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 Groll Hirschowitz Syndrome?

The complications of Groll Hirschowitz Syndrome may include:

• Severe weight loss
• Progressive hearing loss, leading to deafness
• Progressive loss of gastric motility
• Jejunoileal ulceration
• Cardiac problems 
• Worsening neuropathy

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

How is Groll Hirschowitz Syndrome Treated?

Presently, there is no cure for Groll Hirschowitz Syndrome, since the cause of the condition is unknown. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Groll Hirschowitz Syndrome be Prevented?

Currently, Groll Hirschowitz 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 Groll Hirschowitz Syndrome? (Outcomes/Resolutions)

• The prognosis of Groll Hirschowitz Syndrome is poor, owing to a progressive worsening of neuropathy and gastric motility
• Affected individuals may succumb to severe malabsorption, ulcers in the intestine, and demyelination of peripheral nerves 

Additional and Relevant Useful Information for Groll Hirschowitz Syndrome:

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

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