National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Greenberg dysplasia

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Since my daughter passed from Greenberg dysplasia, I have checked the leading publications for news of this condition. I am both happy and perplexed at the lack of mention. Are there truly only a handful of cases? Has this horrible condition not captured the eye of the research community? I was told that my daughter's death (after three weeks in the NICU) was due to this extraordinary mutation, and that her survival (although short) was beyond expectation. I am desperately looking for more information. Both my husband and I are carriers for the mutation and have many siblings. Our siblings have concerns over the prevalence of this mutation. I am not a medical professional. I would appreciate any response in "layman's terms" please.

The following information may help to address your question:


What is Greenberg dysplasia?

Greenberg dysplasia is a very severe disorder that that affects the bones.[1] 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.[2] Because of the very severe symptoms of Greenberg dysplasia, fetuses with this condition do not survive until birth. 
Last updated: 8/24/2016

What are the signs and symptoms of Greenberg dysplasia?

Greenberg dysplasia causes problems when the bones are developing in a fetus. Bones have a spotted, moth-eaten look when seen on an X-ray. Another sign is the abnormal build up of calcium in soft tissues of the body (ectopic calcification). The legs and arms are severely shortened (micromelia) and there may be extra fingers or toes (polydactyly). The fetus may also develop severe swelling all over the body called hydrops fetalis.
Last updated: 8/24/2016

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.[3]

Last updated: 8/24/2016

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.[4][5]
Last updated: 8/24/2016

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: 8/24/2016

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: 8/24/2016

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 12/6/2017

What is the prognosis for Greenberg dysplasia?

Greenberg dysplasia is a very severe condition that causes a fetus to not survive to birth.[4]
Last updated: 8/24/2016

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.[4][2]
Last updated: 8/24/2016

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: 8/24/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Greenberg dysplasia. Genetics Home Reference. February 2012; https://ghr.nlm.nih.gov/condition/greenberg-dysplasia.
  2. Clayton P et. al. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus. Jul-Aug 2010; 1(4):354-366. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027044/.
  3. LBR - lamin B receptor. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=lbr#location. Accessed 7/15/2009.
  4. Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M et al. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagnosis. 2008; https://www.ncbi.nlm.nih.gov/pubmed/18382993.
  5. Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001;