spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal Dysplasia Tarda (SEDT): A Rare Genetic Disorder

Spondyloepiphyseal dysplasia tarda, also known as SEDT, is a rare genetic disorder that affects the growth and development of bones in the spine and limbs. It is an X-linked recessive disorder, meaning it primarily affects males.

Key Characteristics:

• Short stature: Individuals with SEDT typically have moderate short stature (dwarfism) and may experience linear growth deficiency beginning around age six to eight years.
• Spinal deformities: Moderate-to-severe spinal deformities are a common feature of SEDT, which can lead to a barrel-shaped chest and disproportionately short trunk and neck.
• Premature osteoarthritis: Individuals with SEDT may experience premature degenerative changes in the joints, leading to arthritis.

Age of Onset:

SEDT typically manifests around puberty, but signs and symptoms may be first diagnosed as Perthes disease, which occurs when the blood supply to the rounded head of the thighbone is interrupted. In some cases, SEDT may not become apparent until a child is between 5 and 10 years old.

Inheritance:

SEDT is inherited in an X-linked recessive pattern, meaning it primarily affects males who inherit the mutated gene from their mother. Females can be carriers of the condition but are less likely to experience symptoms themselves.

References:

• [1] SEDT is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral bodies and epiphyses during skeletal growth. (Source: [4])
• [2-3] The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs, with "tarda" indicating that signs and symptoms of this condition typically manifest later in life. (Sources: [3], [13])
• [5] SEDT is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. (Source: [14])

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary skeletal disorder that primarily affects males. The specific symptoms and severity of SEDT can vary greatly from one person to another.

Physical Characteristics:

• Disproportionate short stature in adolescence or adulthood
• Short trunk and arms
• Barrel-shaped chest

These physical characteristics are often apparent by puberty, although abnormalities may be seen on X-ray at an earlier age. In some cases, affected individuals may not have all of the symptoms discussed below.

Other Symptoms:

• Bone deformities, including short stature, short body trunk, long limbs in relation to their frame, hip deformities such as coxa vara
• Cleft palate
• Flat feet
• Knock-knees
• Curved spine
• Hearing loss

It's essential to note that the signs and symptoms of SEDT can vary widely from person to person, and not all affected individuals will exhibit all of these characteristics. The condition is often first diagnosed in childhood or even adulthood.

Age of Onset:

• Signs and symptoms typically appear later in childhood, between ages 6 and 10
• In some cases, abnormalities may be seen on X-ray at an earlier age

The exact cause of SEDT is not always clear, but it is believed to be related to a disruption in bone development. In about 10 percent of affected males, an identified mutation in the TRAPPC2 gene is not found.

References:

• [1] Short stature and skeletal abnormalities are characteristic features of SEDT (4)
• [2] Physical characteristics such as short trunk and arms are often apparent by puberty (3)
• [3] Bone deformities and other symptoms can vary widely from person to person (7, 9)
• [4] The condition is often first diagnosed in childhood or even adulthood (11)

Diagnostic Tests for Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that affects the skeletal system. Diagnosing SEDT can be challenging, but various diagnostic tests can help confirm the condition.

X-rays: X-ray imaging of the spine, pelvis, and lower extremities can reveal characteristic skeletal abnormalities associated with SEDT [6][10]. These may include short stature, abnormal vertebral bodies, and other bone deformities.

Genetic testing: Molecular genetic testing can detect mutations in the gene responsible for SEDT. This test involves analyzing a sample of saliva or blood to identify specific genetic markers [2][7][8].

Arthrograms: An arthrogram is an imaging test that uses dye to visualize the cartilage and joints. It may be used to assess the severity of joint abnormalities in individuals with SEDT [10].

Other diagnostic procedures: In addition to these tests, a complete medical history, physical examination, and other diagnostic procedures may be performed to confirm a diagnosis of SEDT.

It's worth noting that antenatal gene testing is also available for SEDT, which can help identify the condition in unborn children [9].

References: [2] - Single-gene testing. Sequence analysis of TRAPPC2 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and ... [6] - Diagnostic procedures may include: X-rays of the neck, spine, lower extremities and pelvis. [7] - Nov 1, 2001 — Single-gene testing. Sequence analysis of TRAPPC2 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and ... [8] - Testing and diagnosis ; X-rays, which produce images of bones. ; Genetic testing, in which a sample of your child's saliva or blood is used to identify your ... [9] - Oct 26, 2023 — Antenatal gene testing is available. Antenatal testing for SED tarda may be offered on the basis of molecular diagnosis. [10] - Diagnosis of Spondyloepiphyseal Dysplasia Tarda. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team. ... The following organization(s) may maintain a list of experts or expert centers for people living with Spondyloepiphyseal dysplasia tarda: The MAGIC Foundation ; GARD Genetic and Rare Diseases Information Center.

Spondyloepiphyseal dysplasia tarda (SEDt) is a genetic disorder that affects bone growth, leading to short stature and joint pain. While there is no cure for SEDt, various treatment options are available to manage its symptoms and complications.

Treatment Goals

The primary goals of treating SEDt are to:

• Ease symptoms such as back, hip, and knee pain
• Fix skeletal abnormalities, if possible
• Prevent complications like joint degeneration and osteoarthritis

Treatment Options

1. Spinal fusion: This surgical procedure can help stabilize the spine and alleviate back pain.
2. Bracing: Wearing a brace can help support the spine and joints, reducing pain and discomfort.
3. Physical therapy: Gentle exercises and stretches can help maintain joint mobility and reduce stiffness.
4. Pain management: Medications such as analgesics, anti-inflammatory drugs, and muscle relaxants can help manage pain and discomfort.
5. Orthotics: Custom-made orthotics can provide additional support and stability for the joints.

Management of Complications

Complications like joint degeneration and osteoarthritis require specific treatment approaches:

1. Joint replacement surgery: In severe cases, joint replacement surgery may be necessary to alleviate pain and restore mobility.
2. Physical therapy: Gentle exercises and stretches can help maintain joint mobility and reduce stiffness.

Alternative Therapies

Some studies suggest that alternative therapies like Ayurvedic herbs and Panchakarma may also play a role in managing SEDt symptoms:

1. Ayurvedic herbs: Certain herbs like turmeric, ginger, and ashwagandha may help reduce inflammation and alleviate pain.
2. Panchakarma: This traditional Indian therapy involves gentle exercises, massages, and other techniques to promote overall well-being.

It is essential to consult with a healthcare professional for personalized advice on managing SEDt symptoms and complications. They can help determine the best course of treatment based on individual needs and circumstances.

References:

• Reference 9: Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World Journal of Radiology 2014; 6(10): 808-25.
• Reference 14: About one in 100,000 newborns are affected. Spondyloepiphyseal dysplasia tarda (SEDT) affects only males, and its symptoms often are not apparent until a child is 6 to 8 years old. ... Spondyloepiphyseal dysplasia DIAGNOSIS AND TREATMENT. SEDC's skeletal features are present at birth and evolve over time. SEDT is not apparent until a child is 6 ...
• Reference 15: Patient-Focused Drug Development; Improving clinical care. Rare Disease Centers of Excellence; ... Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a ...

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary skeletal disorder that can be challenging to diagnose due to its similarities with other bone dysplasias. To establish an accurate diagnosis, it's essential to consider the differential diagnoses of SEDT.

Key Differential Diagnoses:

• Morquio syndrome: This condition also affects the epiphyses and is characterized by short stature, short neck, and a characteristic "beaked" nose.
• Multiple epiphyseal dysplasia (MED): MED is another rare bone disorder that can cause short stature, joint pain, and limited mobility.
• Spondyloepimetaphyseal dysplasia: This condition affects the spine, metaphyses, and epiphyses, leading to short stature, spinal deformities, and other skeletal abnormalities.

Key Features for Differential Diagnosis:

To differentiate SEDT from these conditions, clinicians should look for the following features:

• Short stature: All three conditions can cause short stature, but SEDT is characterized by disproportionately short trunk and arm span.
• Spinal and epiphyseal anomalies: SEDT is distinguished by its unique combination of spinal and epiphyseal abnormalities.
• Growth pattern: Affected males with SEDT exhibit linear growth deficiency beginning around age six to eight years.

References:

• [3] X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
• [4] Marquio syndrome (congenita/tarda); multiple epiphyseal dysplasia (tarda); spondyloepimetaphyseal dysplasia · Kniest ...
• [10] 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.

By considering these differential diagnoses and key features, clinicians can establish an accurate diagnosis of SEDT and provide appropriate management for affected individuals.