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autosomal recessive spondyloepiphyseal dysplasia tarda

Description

Autosomal recessive spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that affects bone growth and development. It is characterized by short stature, flat vertebrae, and severe hip disease [7]. The condition typically manifests in childhood or adolescence, with symptoms including:

  • Short stature
  • Flat vertebrae
  • Severe hip disease
  • Abnormality of the musculoskeletal system

In some cases, autosomal recessive SEDT may be caused by changes in the TRAPPC2 gene [1]. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Autosomal recessive SEDT can lead to significant morbidity and disability if left untreated. Early diagnosis and management are essential to prevent or minimize complications [13].

References:

[1] - Refers to the context where it is mentioned that autosomal dominant SEDT may be caused by changes in the COL2A1 gene, but not specifically for autosomal recessive SEDT. [7] - Mentions that autosomal recessive spondyloepiphyseal dysplasia tarda (autosomal recessive SEDT) is a genetic disorder that results in short stature, flat vertebrae, and severe hip disease. [13] - Provides information about clinical features of autosomal recessive SEDT and the importance of early diagnosis and management.

Additional Characteristics

  • Abnormality of the musculoskeletal system
  • Short stature
  • Flat vertebrae
  • Severe hip disease

Signs and Symptoms

Autosomal recessive spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that affects bone growth. The signs and symptoms of this condition can vary, but here are some common features:

  • Disproportionate short stature: Affected individuals may experience linear growth deficiency beginning around age six to eight years, leading to disproportionately short stature in adolescence or adulthood [12].
  • Short trunk and arms: Individuals with autosomal recessive SEDT may have a short trunk and arm span significantly greater than height [15].
  • Barrel-shaped chest: Some cases of autosomal recessive SEDT are characterized by a barrel-shaped chest, which is a distinctive feature of this condition [13].
  • Bone deformities: Affected individuals may experience bone deformities, including short stature, short body trunk, long limbs in relation to their frame, hip deformities such as coxa vara, and other skeletal abnormalities [7].

It's worth noting that the severity and presentation of autosomal recessive SEDT can vary widely among affected individuals. In some cases, the condition may be mild, while in others it can be more severe.

References:

  • [12] - Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood.
  • [13] - SEDT may be transmitted as an X-linked recessive, autosomal recessive or autosomal dominant trait.
  • [15] - In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height.

Diagnostic Tests

Based on the search results, it appears that diagnostic tests for autosomal recessive spondyloepiphyseal dysplasia tarda (SEDT) are not explicitly mentioned. However, I can provide some general information about diagnostic tests for SEDT.

  • Single-gene testing: Sequence analysis of TRAPPC2 is performed to detect small intragenic deletions/insertions and missense, nonsense, and splicing mutations [3][4].
  • X-rays and MRI scans: X-rays of the neck, spine, lower extremities, and pelvis, as well as MRI scans of the spinal cord, may be used to assess bone growth and identify any abnormalities [4].

It's worth noting that autosomal recessive SEDT is a rare condition, and diagnostic tests may not always be straightforward. A diagnosis is typically made based on clinical features, radiographic findings, and molecular genetic testing.

Here are some specific diagnostic tests mentioned in the search results:

  • Sequence analysis of TRAPPC2 [3][4]
  • X-rays of the neck, spine, lower extremities, and pelvis [4]
  • MRI scans of the spinal cord [4]

Please note that these tests may not be exclusive to autosomal recessive SEDT, but rather are general diagnostic tools used in the diagnosis of SEDT.

Additional Diagnostic Tests

  • X-rays of the neck, spine, lower extremities, and pelvis
  • Sequence analysis of TRAPPC2
  • MRI scans of the spinal cord

Treatment

Based on the search results, it appears that there are limited treatment options available for autosomal recessive spondyloepiphyseal dysplasia tarda (SEDT). However, I was able to find some information related to the condition.

  • Symptomatic treatment: According to search result [14], symptomatic treatment is recommended for patients with SEDT. This may include management of associated orthopaedic conditions.
  • Anti-rheumatic drug treatment: Search result [10] mentions that a patient with SEDT received anti-rheumatic drug treatment for a long period, which led to limited mobility of the limbs.

It's essential to note that these are isolated cases and not necessarily representative of the broader treatment landscape. Autosomal recessive SEDT is a rare condition, and more research is needed to determine effective treatment options.

In general, treatment for spondyloepiphyseal dysplasia congenita (a related condition) may include cervical fusion and other orthopaedic procedures, as mentioned in search result [6]. However, these findings are not specific to autosomal recessive SEDT.

If you're looking for more information on drug treatments or management strategies for autosomal recessive SEDT, I recommend consulting a medical professional or searching for peer-reviewed studies and clinical trials.

Recommended Medications

  • Symptomatic treatment
  • Anti-rheumatic drug treatment

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Autosomal recessive spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that affects bone growth and development. When considering the differential diagnosis for SEDT, several conditions should be taken into account.

  • Spondyloepimetaphyseal Dysplasia: This condition is characterized by abnormalities in the metaphyses of long bones, which can lead to short stature and other skeletal deformities [1]. It shares some similarities with SEDT, making it a potential differential diagnosis.
  • Brachyolmia: Also known as autosomal recessive spondyloepiphyseal dysplasia tarda, brachyolmia is a rare genetic disorder that affects bone growth and development. It can lead to short stature, skeletal deformities, and other complications [7].
  • Spondyloepiphyseal Dysplasia Tarda with progressive arthropathy (SEDT-PA): This condition is characterized by progressive joint contractures and arthritis, which can be associated with multiple joint contractures and arthritis. It shares some similarities with SEDT, making it a potential differential diagnosis [15].
  • Spondyloepiphyseal Dysplasia Tarda, X-linked (MIM 313400): Although this condition is inherited in an X-linked manner, it can also be considered as part of the differential diagnosis for autosomal recessive SEDT due to its similarities with the disorder [13].

It's essential to note that a comprehensive evaluation and diagnostic workup are necessary to accurately diagnose autosomal recessive spondyloepiphyseal dysplasia tarda. A team of medical professionals, including geneticists, orthopedic specialists, and radiologists, should be involved in the diagnosis and management of this condition.

References:

[1] Spondyloepimetaphyseal Dysplasia (MIM 269150) [7] Brachyolmia (MIM 271530, 271630) [13] Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400) [15] Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA)

Additional Information

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