Disease Profile

Dysplasia epiphysealis hemimelica

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Childhood

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ICD-10

Q74.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Trevor disease

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children.[1][2] Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms.[3][4] Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.[5] The cause of dysplasia epiphysealis hemimelica is not known.[2]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Bone pain
0002653
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Irregular epiphyses
Irregular end part of long bone
0010582
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Osteoarthritis
Degenerative joint disease
0002758
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Tarsal synostosis
Fused ankle bones
0008368
30%-79% of people have these symptoms
Genu valgum
Knock knees
0002857
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
5%-29% of people have these symptoms
Abnormal femoral neck morphology
Abnormal neck of thigh bone
0003367
Flattened femoral head
Flat head of thigh bone
0008812
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Percent of people who have these symptoms is not available through HPO
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies

[ more ]

0000924
Overgrowth
General overgrowth
0001548

Learn More

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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dysplasia epiphysealis hemimelica. Click on the link to view a sample search on this topic.

References

  1. Wenger DR, Adamczk MJ. Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. Iowa Orthop J. 2005; https://www.ncbi.nlm.nih.gov/pubmed/16089075. Accessed 5/10/2011.
  2. Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007; https://www.ncbi.nlm.nih.gov/pubmed/17490719. Accessed 5/10/2011.
  3. Rosero VM, Kiss S, Terebessy T, Kollo K, Szoke G. Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. Acta Orthop. 2007; https://www.ncbi.nlm.nih.gov/pubmed/18236195. Accessed 5/10/2011.
  4. Douira-Khomsi W, Louati H, Mormech Y, et al.. Dysplasia epiphysealis hemimelica: a report of four cases. Foot Ankle Surg. 2011; https://www.ncbi.nlm.nih.gov/pubmed/21276564. Accessed 5/10/2011.
  5. Smith EL, Raney EM, Matzkin EG, Fillman RR, Yandow SM. Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. J Pediatr Orthop B. 2007; https://www.ncbi.nlm.nih.gov/pubmed/17527110. Accessed 5/10/2011.