Living with Greenberg dysplasia
A severe bone condition that affects the developing baby before birth, with a distinctive moth-eaten look of the bones on X-ray and swelling of the body.
Understanding Greenberg dysplasia
The bones don't develop properly and look spotted or "moth-eaten" on X-ray, with abnormal calcium deposits. The arm and leg bones are extremely short and the vertebrae are flat (platyspondyly). Short ribs and extra fingers may occur. Affected babies also have widespread swelling from fluid buildup (hydrops fetalis). The name stands for hydrops, ectopic calcification, moth-eaten skeletal dysplasia.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Moth-eaten bone look on X-ray
- Abnormal calcium deposits in bone
- Extremely short arm and leg bones
- Flattened vertebrae (platyspondyly)
- Short ribs and extra fingers
- Swelling from fluid buildup (hydrops fetalis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in LBR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LBR gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: chondrodystrophy, hydropic and prenatally lethal type; grbgd; hem dysplasia; hem skeletal dysplasia; hydrops-ectopic calcification-motheaten syndrome; moth-eaten skeletal dysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Greenberg dysplasia.
Explore research for Greenberg dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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