Acro–dermato–ungual–lacrimal–tooth syndrome

Acro–dermato–ungual–lacrimal–tooth syndrome (ADULT syndrome) is a rare genetic disorder that affects the development of various parts of the body. The name of the syndrome is an acronym that represents the main features of the disorder: acro (limbs), dermato (skin), ungual (nails), lacrimal (tear ducts), and tooth.

Etymology

The term "Acro–dermato–ungual–lacrimal–tooth syndrome" is derived from the Greek words 'akron' (extremity), 'derma' (skin), 'onyx' (nail), 'dakryon' (tear), and 'odontos' (tooth), which describe the main features of the disorder.

Symptoms

The symptoms of ADULT syndrome can vary greatly among affected individuals. Common symptoms include:

• Fused fingers or toes (syndactyly)
• Skin abnormalities such as dry, scaly skin (ichthyosis) or sparse hair
• Nail abnormalities such as small, ridged nails
• Tear duct abnormalities that can lead to dry eyes or excessive tearing
• Dental abnormalities such as missing or small teeth

Causes

ADULT syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein that is crucial for the development of many tissues before birth. Mutations in the TP63 gene disrupt the normal development of these tissues, leading to the features of ADULT syndrome.

Diagnosis

Diagnosis of ADULT syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the TP63 gene.

Treatment

There is currently no cure for ADULT syndrome. Treatment is symptomatic and supportive, and may include surgery to correct physical abnormalities, skin care to manage ichthyosis, and dental care to manage tooth abnormalities.

See also

• Ectodermal dysplasia
• Limb-Mammary syndrome
• Rapp-Hodgkin syndrome

References

Acro–dermato–ungual–lacrimal–tooth syndrome Resources
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