Greenbottle fly

Greenberg Dysplasia is a rare, lethal genetic disorder characterized by severe growth retardation and abnormalities in skeletal development. It is also known as Hyaline Panacinar Granulomatosis or HEM dysplasia.

Etiology

Greenberg Dysplasia is caused by mutations in the LBR gene, which provides instructions for making a protein that is found in the inner membrane of the nucleus in cells. This protein plays a crucial role in the production of cholesterol, which is necessary for normal skeletal development.

Clinical Features

The clinical features of Greenberg Dysplasia include severe intrauterine growth retardation, abnormal bone development, including short limbs and a small chest with short ribs, and facial abnormalities such as a small jaw and prominent forehead. Other features can include an abnormally shaped skull, a short neck, and abnormalities of the skin, heart, and other organs.

Diagnosis

Diagnosis of Greenberg Dysplasia is based on clinical features and confirmed by genetic testing. Prenatal diagnosis is possible if there is a known mutation in the family.

Treatment

There is currently no cure for Greenberg Dysplasia. Treatment is supportive and focuses on managing symptoms and improving quality of life.

Prognosis

The prognosis for individuals with Greenberg Dysplasia is poor. Most affected individuals die before or shortly after birth due to respiratory failure.

Epidemiology

Greenberg Dysplasia is extremely rare, with only a few cases reported in the medical literature. It appears to occur in individuals of all ethnic backgrounds.

See Also

• List of genetic disorders
• Cholesterol
• Genetic testing