What does MOPD mean in UNCLASSIFIED

Etiology and Genetics

MOPD is caused by mutations in the gene PCNT (pericentrin), which is responsible for maintaining the structure of the centrosome, an essential cellular organelle involved in cell division and growth. Mutations in PCNT disrupt centrosome function, leading to developmental defects and abnormal cell proliferation.

Clinical Features

Physical Features:

• Severe growth restriction with a small birth weight and height below the 3rd percentile
• Microcephaly (small head circumference)
• Prominent forehead
• Wide-set eyes
• Short neck
• Broad shoulders
• Short limbs with bowing of the long bones
• Joint contractures and restricted movement
• Skin laxity and wrinkles

Organ System Involvement:

• Neurological: Seizures, developmental delay, intellectual disability
• Cardiovascular: Heart defects, such as atrial septal defects or pulmonary stenosis
• Renal: Kidney problems, including renal agenesis (absence of kidneys)
• Skeletal: Scoliosis, kyphosis, osteopenia (decreased bone density)

Diagnosis

MOPD is diagnosed based on clinical features, physical examination, and genetic testing. Imaging studies, such as X-rays, may show characteristic skeletal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the PCNT gene.

Treatment and Prognosis

There is no cure for MOPD, and treatment focuses on managing the symptoms and improving the quality of life. Treatment may include:

• Growth hormone therapy
• Physical therapy to improve mobility
• Surgery to correct skeletal deformities
• Medical management for organ system involvement

The prognosis for individuals with MOPD varies depending on the severity of the condition. Some individuals may have a relatively mild form with a normal life expectancy, while others may have severe developmental and health complications.