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

• Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
• Acro Dermato Ungual Lacrimal Tooth (ADULT) Syndrome

What is ADULT Syndrome? (Definition/Background Information)

• ADULT (Acro-Dermo-Ungual-Lacrimal-Tooth) Syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia

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

Who gets ADULT Syndrome? (Age and Sex Distribution)

• ADULT Syndrome is a rare congenital disorder. The presentation of symptoms may occur following the birth of the child
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors of ADULT Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for ADULT 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 ADULT Syndrome? (Etiology)

The cause of development of ADULT Syndrome is presently unknown.

What are the Signs and Symptoms of ADULT Syndrome?

The signs and symptoms of ADULT Syndrome may include:

• Adermatoglyphia
• Conjunctivitis
• Cutaneous photosensitivity
• Dermal atrophy
• Ectodermal dysplasia
• Eczema
• Fair hair
• Hypodontia
• Microdontia
• Oligodontia
• Oral cleft
• Premature loss of permanent teeth
• Sparse axillary hair
• Split hand
• Wide intermamillary distance

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

• Dry skin
• Fine hair
• Finger syndactyly
• Fingernail dysplasia
• Freckling
• Melanocytic nevus
• Nail pits
• Nasolacrimal duct obstruction
• Skin ulcer
• Split foot
• Thin skin
• Toe syndactyly
• Toenail dysplasia

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

• Abnormality of dental morphology
• Absent nipple
• Alopecia
• Breast hypoplasia
• Hypoplastic nipples
• Sparse scalp hair

Occasionally present symptoms in 5-29% of the cases:

• Prominent nasal bridge
• Wide nasal bridge

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

How is ADULT Syndrome Diagnosed?

ADULT 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 ADULT Syndrome?

The complications of ADULT Syndrome may include:

• Facial abnormalities
• Cosmetic concerns due to excessive freckling
• Skin sensitivity to light

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

How is ADULT Syndrome Treated?

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

How can ADULT Syndrome be Prevented?

• Currently, ADULT Syndrome may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of ADULT Syndrome? (Outcomes/Resolutions)

• The prognosis of ADULT 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 ADULT Syndrome:

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

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