MDP syndrome

Overview

Diagram illustrating autosomal dominant inheritance.

MDP syndrome is a rare genetic disorder characterized by a combination of lipodystrophy, deafness, and progeroid features. The syndrome is named after the main symptoms: Mandibular hypoplasia, Deafness, and Progeroid features. It is an autosomal dominant condition, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with MDP syndrome typically present with a distinct set of clinical features:

• Mandibular hypoplasia: Underdevelopment of the mandible (lower jaw), leading to facial abnormalities.
• Deafness: Sensorineural hearing loss is common in affected individuals.
• Progeroid features: These include premature aging, skin atrophy, and loss of subcutaneous fat.
• Lipodystrophy: Abnormal distribution of body fat, often leading to a lack of fat in the face and limbs.

Genetics

MDP syndrome is caused by mutations in the POLD1 gene, which encodes the catalytic subunit of DNA polymerase delta. This enzyme is crucial for DNA replication and repair. The mutations lead to a malfunction in DNA replication, contributing to the symptoms of the syndrome.

The condition follows an autosomal dominant pattern of inheritance, as depicted in the diagram. This means that an affected individual has a 50% chance of passing the mutated gene to each offspring.

Diagnosis

Diagnosis of MDP syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic features such as mandibular hypoplasia, deafness, and progeroid features can prompt genetic testing to confirm the diagnosis.

Management

There is currently no cure for MDP syndrome, and treatment is primarily supportive. Management strategies may include:

• Hearing aids or cochlear implants for hearing loss.
• Cosmetic surgery to address facial abnormalities.
• Nutritional support to manage lipodystrophy and maintain healthy body weight.

Related Pages

• Lipodystrophy
• Progeroid syndromes
• Autosomal dominant inheritance