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

Camurati Engelmann disease, type 2


Other Names:
CED2; Progressive diaphyseal dysplasia with striations of the bones
Categories:
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence.[1]

Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant.[1][2] In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms.[1] In others, symptoms are present, but a gene mutation cannot be found. These cases are referred to as Camurati-Engelmann disease type 2.[2]

Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.[3] Treatment options  to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches.[3]
Last updated: 5/21/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Disproportionate tall stature 0001519
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] 		0003155
Elevated erythrocyte sedimentation rate
High ESR
0003565
Hip contracture 0003273
Hyperostosis
Bone overgrowth
0100774
Hypogonadism
Decreased activity of gonads
0000135
Knee flexion contracture 0006380
Lower limb pain
Leg pain
0012514
Mitral regurgitation 0001653
Mitral valve prolapse 0001634
Muscle weakness
Muscular weakness
0001324
Osteopenia 0000938
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Thoracolumbar scoliosis 0002944
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Camurati Engelmann disease, type 2. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Camurati Engelmann disease, type 2:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Camurati Engelmann disease, type 2. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Camurati-Engelmann disease. Genetics Home Reference. November, 2017; https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease.
  2. Camurati-Engelmann disease. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328.
  3. Wallace SE and Wilcox WR. Camurati-Engelmann Disease. GeneReviews. October 12, 2017; http://www.ncbi.nlm.nih.gov/books/NBK1156/.