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

• Alopecia Mental Retardation Syndrome 1
• Alopecia with Severe Intellectual Deficit
• Alopecia-Intellectual Deficit Syndrome

What is Alopecia-Intellectual Disability Syndrome? (Definition/Background Information)

• Alopecia-Intellectual Disability Syndrome is an extremely uncommon disorder that is marked by, and as the name indicates, complete or partial hair loss along-with progressive mental retardation
• The condition is also known as Alopecia with Severe Intellectual Deficit and can be present with epileptic seizures, hearing impairment, poor muscle tone, and delayed cognitive functions and physical movement (psychomotor development)
• Alopecia-Intellectual Disability Syndrome is treated by managing the symptoms. This may include the use of hair growth agents, hair grafts, use of hearing devices, and psychotherapy. The prognosis of the condition depends upon its severity

Who gets Alopecia-Intellectual Disability Syndrome? (Age and Sex Distribution)

• Alopecia-Intellectual Disability Syndrome is an extremely rare congenital disorder. It has been only reported in about 20 families
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Alopecia-Intellectual Disability Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Alopecia-Intellectual Disability 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 Alopecia-Intellectual Disability Syndrome? (Etiology)

The exact cause of development of Alopecia-Intellectual Disability Syndrome is presently unknown.

What are the Signs and Symptoms of Alopecia-Intellectual Disability Syndrome?

The signs and symptoms of Alopecia-Intellectual Disability Syndrome may include:

• Hair loss that may be partial or total (alopecia universalis)
• Progressive and severe intellectual disability
• Sparse hair on the body, eyebrows, and eyelashes
• Hearing impairment
• Weak muscle tone
• Small-sized head and ears; abnormally-shaped ears
• Sensitivity to light
• Dry "fish-scale" skin (ichthyosis)

How is Alopecia-Intellectual Disability Syndrome Diagnosed?

Alopecia, Alopecia-Intellectual Disability Syndrome is diagnosed on the basis of the following information:

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• Behavioral studies and neurological assessments
• Dermoscopy: Dermoscopy 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, if necessary: A skin 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
• Diagnostic tests to check for an underlying disorder or condition if present

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 Alopecia-Intellectual Disability Syndrome?

The complications of Alopecia-Intellectual Disability Syndrome may include:

• Severe emotional stress
• Permanent hair loss
• Delayed skeletal maturation
• Scoliosis (abnormal spinal curvature)
• Seizures
• Total intellectual impairment
• Reduced quality of life

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

How is Alopecia-Intellectual Disability Syndrome Treated?

Presently, there is no cure for Alopecia-Intellectual Disability Syndrome as the cause of the condition is unknown. The treatment is usually given to manage the signs and symptoms and any complications that develops. The healthcare provider may consider the following treatment measures:

• Topical lotions and creams for hair growth
• Administration of immunosuppressants
• Intralesional injection of medication 
• Hair grafting, if necessary
• Hearing aids for hearing loss
• Physical therapy, occupational therapy, and supportive care
• Psychotherapy and behavior modification

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

How can Alopecia-Intellectual Disability Syndrome be Prevented?

Currently, Alopecia-Intellectual Disability Syndrome may not be preventable since the cause of the disorder is unknown.

What is the Prognosis of Alopecia-Intellectual Disability Syndrome? (Outcomes/Resolutions)

• The prognosis of Alopecia-Intellectual Disability Syndrome is dependent upon the severity of the signs and symptoms and any associated complications
• In many individuals, mental health decreases progressively and severely, thus necessitating supportive care and therapy for the rest of their lives

Additional and Relevant Useful Information for Alopecia-Intellectual Disability Syndrome:

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

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