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

• Dorfman-Chanarin Syndrome (DCS)
• Neutral Lipid Storage Disease with Ichthyosis (NLSDI)
• Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation

What is Chanarin-Dorfman Syndrome? (Definition/Background Information)

• Chanarin-Dorfman Syndrome (CDS) is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears
• At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver, cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability
• The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body
• Chanarin-Dorfman Syndrome is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern

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

Who gets Chanarin-Dorfman Syndrome? (Age and Sex Distribution)

• Chanarin-Dorfman Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Chanarin-Dorfman Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Chanarin-Dorfman Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

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 Chanarin-Dorfman Syndrome? (Etiology)

• Chanarin-Dorfman Syndrome is a rare genetic disorder that is transmitted in an autosomal recessive manner
• It is caused by gene mutations involving the ABHD5 gene

Autosomal recessive pattern of 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 Chanarin-Dorfman Syndrome?

The signs and symptoms of Chanarin-Dorfman Syndrome may include:

• Abnormality of blood and blood-forming tissues
• Alopecia
• Congenital non-bullous ichthyosiform erythroderma
• Ectropion
• Everted lower lip vermilion
• Hepatic steatosis
• Hepatomegaly
• Microtia
• Muscle weakness
• Myopathy
• Sensorineural hearing impairment
• Subcapsular cataract

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

How is Chanarin-Dorfman Syndrome Diagnosed?

Chanarin-Dorfman 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 Chanarin-Dorfman Syndrome?

The complications of Chanarin-Dorfman Syndrome may include:

• Abnormalities in liver function
• Problems with coordinated movement
• Impaired vision
• Hearing loss
• Low self-esteem due to cosmetic issues related to skin 

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

How is Chanarin-Dorfman Syndrome Treated?

There is no cure for Chanarin-Dorfman 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 Chanarin-Dorfman Syndrome be Prevented?

Chanarin-Dorfman 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), if available, 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 Chanarin-Dorfman Syndrome? (Outcomes/Resolutions)

• The prognosis of Chanarin-Dorfman 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 Chanarin-Dorfman Syndrome:

Chanarin-Dorfman Syndrome is also known by the following names:

• Chanarin-Dorfman Disease
• Disorder of Cornification 12 (Neutral Lipid Storage type)
• Ichthyosiform Erythroderma With Leukocyte Vacuolation

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

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