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

• Alopecia Deafness Hypogonadism

What is Crandall Syndrome? (Definition/Background Information)

• Crandall Syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies
• It has been described in three brothers. It resembles Björnstad's syndrome that combines irregular pili torti and deafness
• It is probably inherited as an autosomal recessive disorder

(Source: Crandall Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Crandall Syndrome? (Age and Sex Distribution)

• Crandall Syndrome is an extremely 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 Crandall Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Crandall Syndrome
• A positive family history may be an important risk factor, since the syndrome can be reportedly 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 Crandall Syndrome? (Etiology)

• It is believed to be a genetic disorder that 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 Crandall Syndrome?

The signs and symptoms of Crandall Syndrome may include:

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

• Alopecia
• Aplasia/hypoplasia of the eyebrow
• Hypogonadism
• Pili torti
• Sensorineural hearing impairment
• Sparse body hair

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

• Fine hair

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

How is Crandall Syndrome Diagnosed?

Crandall 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 Crandall Syndrome?

The complications of Crandall Syndrome may include:

• Emotional stress due to cosmetic concerns
• Loss of hearing
• Infertility in males

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

How is Crandall Syndrome Treated?

Presently, there is no cure for Crandall Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Crandall Syndrome be Prevented?

Currently, Crandall Syndrome may not be preventable, since it may be 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 Crandall Syndrome? (Outcomes/Resolutions)

• The prognosis of Crandall 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 Crandall Syndrome:

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

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