Acro–dermato–ungual–lacrimal–tooth syndrome

Acro–dermato–ungual–lacrimal–tooth syndrome

Diagram of autosomal dominant inheritance

Acro–dermato–ungual–lacrimal–tooth syndrome (ADULT syndrome) is a rare genetic disorder characterized by abnormalities in the development of the limbs, skin, nails, lacrimal apparatus, and teeth. It is inherited in an autosomal dominant pattern.

Genetics

ADULT syndrome is caused by mutations in the TP63 gene, which plays a crucial role in the development of ectodermal tissues. The TP63 gene provides instructions for making a protein that is involved in the formation of skin, limbs, and other tissues during embryonic development.

Clinical Features

Individuals with ADULT syndrome typically present with:

• Ectrodactyly: A condition where the fingers or toes are missing or fused together.
• Nail dysplasia: Abnormal development of the nails, which may be small, malformed, or absent.
• Lacrimal duct obstruction: Blockage of the tear ducts, leading to excessive tearing or epiphora.
• Hypodontia: Missing teeth or abnormal tooth development.
• Skin abnormalities: These may include hyperpigmentation, hypopigmentation, or other skin lesions.

Diagnosis

Diagnosis of ADULT syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the TP63 gene. Prenatal diagnosis is possible if the mutation is known in the family.

Management

Management of ADULT syndrome is symptomatic and supportive. It may involve:

• Surgical correction of limb abnormalities.
• Dental care to address missing or malformed teeth.
• Treatment for lacrimal duct obstruction, which may include surgical intervention.
• Dermatological care for skin abnormalities.

Prognosis

The prognosis for individuals with ADULT syndrome varies depending on the severity of the symptoms. With appropriate management, individuals can lead relatively normal lives, although they may require ongoing medical care.

Related pages

• Ectodermal dysplasia
• TP63
• Autosomal dominant disorder
• Genetic disorder

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  Diagram showing autosomal dominant inheritance pattern.