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

• ALDS (Albinism Deafness Syndrome)
• Woolf Syndrome
• Ziprkowski-Margolis Syndrome

What is Albinism Deafness Syndrome? (Definition/Background Information)

• Albinism-Deafness Syndrome (ALDS or ADFN) is a highly uncommon congenital disorder involving the skin and auditory senses that predominantly affects males, since it is an X-linked genetic disorder. It is characterized by sensorineural hearing loss and mild to severe albinism
• The condition is managed by using sunscreens for sun protection and hearing implants and other hearing assistive devices. The prognosis of Albinism-Deafness Syndrome depends on its severity. Some individuals may have total hearing impairment and severe skin pigmentation changes

Who gets Albinism Deafness Syndrome? (Age and Sex Distribution)

• Albinism Deafness Syndrome is an extremely rare congenital disorder, and the presentation of symptoms may occur at or following birth of the child
• Since the condition is X-linked, males are predominantly affected. However, some females are known to present milder symptoms
• Worldwide, individuals of all racial and ethnic groups may be affected. However, the condition is exceedingly rare

What are the Risk Factors for Albinism Deafness Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Albinism Deafness 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 Albinism Deafness Syndrome? (Etiology)

• The exact cause of Albinism Deafness Syndrome, an X-linked genetic disorder, is presently unknown
• The gene responsible for the condition is associated with chromosome Xq26.3-q27.1 (on long arm of chromosome X in band q26.3-q27.1)

What are the Signs and Symptoms of Albinism Deafness Syndrome?

The signs and symptoms of Albinism Deafness Syndrome may vary from one individual to another and can be mild or severe. It may include:

• Albinism - appearance of pale white, yellow, or lighter than normal color of skin and hair; this may be severe or partial
• Presence of irregular light or dark skin patches (hypopigmentation or hyperpigmentation)
• Sensorineural hearing impairment
• Eye abnormalities such as multicolored eye
• Piebaldism - congenital absence of melanocytes in hair and skin
• Girls may present mild symptoms such as partial hearing loss and very mild to no skin pigmentary changes
• Boys may present with severe albinism along-with hearing impairment

How is Albinism Deafness Syndrome Diagnosed?

Albinism Deafness Syndrome is diagnosed on the basis of the following information:

• Complete physical examination and thorough medical history evaluation
• Assessment of the presenting signs and symptoms
• Hearing assessment through various tests including:
  • Otoscopy: Examination using an instrument that allows the physician to look into the ear canal to visualize the tympanic membrane (eardrum)
  • Weber test: A test in which a vibrating tuning fork is placed on the midline of the head
  • Rinne test: A test in which a vibrating tuning fork is held next to the ear and then in front of the ear, until the individual no longer hears the sound
  • Audiometric test: Hearing tests that involve listening to different tones
  • Tympanometry: A test that puts air pressure in the ear canal in order to move the eardrum, and then measures the eardrum mobility (movement)
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A skin tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Molecular genetic testing

A differential diagnosis may be necessary to eliminate other conditions that present similar signs and symptoms.

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 Albinism Deafness Syndrome?

The complications of Albinism Deafness Syndrome may include:

• Severe emotional stress due to cosmetic concerns
• Speech and hearing impairment; the hearing loss may be total
• Decreased quality of life
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Albinism Deafness Syndrome Treated?

There is no cure for Albinism Deafness Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. This may include:

• Albinism treatment may involve the use of sunscreens with a high SPF (sun protection factor)
• The use of hearing aids and other assistive hearing devices
• Use of sign language for individuals with severe hearing loss
• Cochlear implantation, if needed

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Albinism Deafness Syndrome be Prevented?

Currently, Albinism Deafness 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 Albinism Deafness Syndrome? (Outcomes/Resolutions)

• The prognosis of Albinism Deafness 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 Albinism Deafness Syndrome:

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

https://www.dovemed.com/healthy-living/skin-disorders/