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Greenberg dysplasia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Greenberg dysplasia

Greenberg dysplasia is a rare, prenatally lethal genetic disorder characterized by severe bone abnormalities, including a distinctive "moth-eaten" skeletal appearance and extensive fluid accumulation in the fetus.

Overview

Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

Symptoms & Skeletal Abnormalities

The bones of affected individuals do not develop properly, resulting in several distinct skeletal and physical features:

  • A distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images.
  • Abnormal calcium deposits outside of normal bone structures (ectopic calcification).
  • Extremely short bones in the arms and legs.
  • Abnormally flat vertebrae (platyspondyly).
  • Short ribs and extra fingers (polydactyly).
  • Extensive swelling of the body caused by fluid accumulation (hydrops fetalis).

Because of these key characteristics, the condition is also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM).

Frequency

Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific literature.

Causes

Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol.

Cholesterol is a type of fat produced in the body and obtained from animal-derived foods (such as eggs, meat, fish, and dairy products). It is necessary for normal embryonic development and has important functions both before and after birth. It is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several steps that convert a molecule called lanosterol to cholesterol.

LBR gene mutations involved in Greenberg dysplasia lead to a loss of

Frequently Asked Questions

Greenberg dysplasia follows an autosomal recessive inheritance. When both parents are carriers, each subsequent pregnancy carries a 25 % risk of an affected (lethal) fetus, a 50 % chance of a carrier child, and a 25 % chance of an unaffected, non‑carrier child. Genetic counseling is essential for accurate risk assessment.
Unfortunately, no. The disorder is prenatally lethal due to severe skeletal malformations and hydrops fetalis. Management focuses on supportive care for the mother, thorough counseling about the prognosis, and discussion of reproductive options such as pre‑implantation genetic testing in future pregnancies.
molecular test for pathogenic variants in the LBR gene (sequencing and deletion/duplication analysis) confirms the diagnosis. Testing is recommended for the affected fetus (via chorionic villus sampling or amniocentesis) and for the parents if a mutation is identified, to determine carrier status.
Yes. Detailed fetal ultrasound (often combined with fetal MRI) can reveal the characteristic “moth‑eaten” skeletal pattern, short limbs, polydactyly, and hydrops fetalis, which together raise strong suspicion for Greenberg dysplasia as early as the second trimester.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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