Greenberg dysplasia

What causes Greenberg dysplasia?

Greenberg dysplasia is associated with mutations (changes) in both copies of the lamin B receptor ( LBR ) gene located on chromosome 1.

Last updated on 05-01-20

How is Greenberg dysplasia diagnosed?

Establishing a diagnosis of Greenberg dysplasia can be difficult. Several types of doctors usually work together, such as a maternal-fetal medicine specialist, clinical geneticist, and a pathologist. A prenatal ultrasound usually detects the bone abnormalities and swelling of the body (hydrops fetalis) that develop in this condition. Clinical examination, X-rays, genetic testing, and autopsy may also be performed in order to diagnose Greenberg dysplasia.

Last updated on 05-01-20

What is Greenberg dysplasia?

Greenberg dysplasia is a very severe disorder that that affects the bones. It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and "Moth-eaten" appearance of the skeleton. Greenberg dysplasia is an autosomal recessive condition caused by a mutation in the lamin B receptor ( LBR ) gene. Because of the very severe symptoms of Greenberg dysplasia, fetuses with this condition do not survive until birth.

Last updated on 05-01-20

How can my family members determine their chances of having a child with Greenberg dysplasia?

To determine one's chances of having a child with Greenberg dysplasia, we recommend scheduling a genetics consultation with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members.

Last updated on 05-01-20

Is carrier testing available for Greenberg dysplasia?

Yes. Carrier testing is available for Greenberg dysplasia. Clinical laboratories offering genetic testing for changes in the LBR gene are listed through the Genetic Testing Registry. ( Please note: Most laboratories do not accept direct contact from patients and their families. You may have to work with a medical professional who specializes in genetics to learn more and coordinate testing.)

Last updated on 05-01-20

Are there truly only a handful of cases of Greenberg dysplasia?

Around 12 cases of Greenberg dysplasia have been reported in medical journals. It is possible that some other fetuses have been diagnosed, because not all cases are reported in medical journals.

Last updated on 05-01-20

Is there any current research on Greenberg dysplasia?

Visit our section on Research for this condition to find resources to help you learn about medical research.

Last updated on 05-01-20

What is the prognosis for Greenberg dysplasia?

Greenberg dysplasia is a very severe condition that causes a fetus to not survive to birth.

Last updated on 05-01-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home
Name: Compassionate Friends P.O. Box 3696
Oak Brook, IL, 60522-3696 , United States
Phone: 630-990-0010 Toll Free: 877-969-0010 Fax : 630-990-0246 Email: nationaloffice@compassionatefriends.org Url: http://www.compassionatefriends.org
Name: Helping After Neonatal Death (HAND) Los Gatos, CA, 95031, United States Phone: 888-908-4263 Email: info@handonline.org Url: http://www.handonline.org/resources/handgroups.html
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

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