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multiple epiphyseal dysplasia 1

Description

Multiple epiphyseal dysplasia (MED) 1, also known as MED1, is a rare genetic disorder that affects the growing ends of bones. It is characterized by abnormal development of the bone and cartilage of the epiphyses, leading to premature deterioration of cartilage and early arthritis.

Some specific features of MED1 include:

  • A more pronounced involvement of hip joints
  • Gait abnormality
  • Shorter adult height

MED1 is allelic to other forms of multiple epiphyseal dysplasia, indicating that it shares a common genetic basis with these conditions. The disorder primarily affects the ends of the long bones in the arms and legs (epiphyses), causing cartilage to deteriorate prematurely.

This leads to early-onset osteoarthrosis, which is a type of arthritis that occurs due to wear and tear on the joints. Patients with MED1 may experience irregular, delayed ossification at multiple epiphyses, resulting in short stature and other skeletal abnormalities.

References:

  • [8] Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height.
  • [9] Multiple epiphyseal dysplasia (MED) is a general term for a group of disorders characterized by abnormal development of the bone and cartilage of the epiphyses.
  • [7] Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms ...
  • [6] Jun 16, 2021 — Patients present with a form of dwarfism characterized by irregular, delayed ossification at multiple epiphyses.

Additional Characteristics

  • Short stature
  • Skeletal abnormalities
  • Early arthritis
  • Premature deterioration of cartilage
  • More pronounced involvement of hip joints
  • Gait abnormality
  • Shorter adult height
  • Irregular, delayed ossification at multiple epiphyses

Signs and Symptoms

Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the growth plates of bones, leading to various signs and symptoms. Here are some common ones:

  • Short stature: Patients with MED often have minimal short stature, averaging 57 to 67 inches tall [1].
  • Joint pain: Joint pain, particularly in the hips and/or knees, is a common symptom that develops during childhood [2]. This pain can be exacerbated by exercise or physical activity.
  • Progressive joint disease: As the condition progresses, patients may experience progressive deformity of the large weight-bearing bones, particularly in the hips and knees [3].
  • Early-onset arthritis: Some individuals with MED may exhibit early-onset arthritis, which can lead to joint stiffness and pain [4].
  • Waddling gait: A waddling gait is another common symptom reported by patients with MED [5].
  • Pain at onset: Pain in the hips and knees after exercise or physical activity is a common initial sign of the condition [6].

It's essential to note that the severity and progression of these symptoms can vary significantly among individuals with MED.

Additional Symptoms

Diagnostic Tests

Multiple epiphyseal dysplasia (MED) is a disorder that affects the cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs [3]. Diagnostic tests for MED can include:

  • Radiographic examination: This is typically the first step in diagnosing MED. Radiographs (X-rays) are taken to assess the irregularities in the epiphyses (ends of the long bones) [6].
  • Molecular genetic testing: This test can support a diagnosis of MED by detecting mutations in the genes responsible for the disorder [7]. Molecular genetic testing can include a combination of gene-targeted testing and comprehensive genomic testing [1].

It's worth noting that internal proficiency testing is conducted biannually to ensure the accuracy of diagnostic tests, including those for MED [4]. Additionally, specific features of MED 1 include a more pronounced involvement of hip joints and gait abnormality, as well as a shorter adult height [5].

References: [1] Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel) and comprehensive genomic testing. [3] Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). [4] Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests. [5] Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to ... [6] Diagnosis is made radiographically with presence of irregular, delayed ossification at multiple epiphyses. Treatment is usually physical therapy ... [7] Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia. Molecular genetic testing can detect mutations in the ...

Additional Diagnostic Tests

  • Radiographic examination
  • Molecular genetic testing

Treatment

**Treatment Options

Recommended Medications

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Differential Diagnosis

The differential diagnosis for multiple epiphyseal dysplasia (MED) includes several conditions that can present with similar clinical and radiographic features.

  • Pseudoachondroplasia: This is a genetic disorder characterized by short stature, marked ligamentous laxity, and pes planovalgus. It can be distinguished from MED by the presence of characteristic facial features and joint deformities [1].
  • Spondyloepiphyseal dysplasia: This condition affects the spine and epiphyses, leading to irregular ossification and delayed growth. While it shares some similarities with MED, it typically presents with more pronounced spinal involvement [6].
  • Perthes disease: Also known as Legg-Calve-Perthes disease, this is a condition that affects the hip joint, causing avascular necrosis of the femoral head. It can be distinguished from MED by the presence of characteristic radiographic findings and clinical symptoms [10].

These conditions should be considered in the differential diagnosis for multiple epiphyseal dysplasia, particularly when evaluating patients with similar clinical and radiographic features.

References: [1] - Context result 1 [6] - Context result 6 [10] - Context result 10

Additional Information

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