X-linked spondyloepiphyseal dysplasia tarda

X-linked Spondyloepiphyseal Dysplasia Tarda (SEDT)

X-linked SEDT is a rare genetic disorder that affects the skeletal system. It is characterized by disproportionately short stature with short trunk and limbs, moderate short-stature, spinal deformities, and impaired bone growth.

• Prevalence: The condition is extremely rare, affecting approximately 1-9 individuals per million [6].
• Inheritance: X-linked SEDT is inherited in an X-linked recessive pattern, meaning it predominantly affects males who have only one X chromosome. Females can be carriers of the mutated gene but are usually asymptomatic or mildly affected [2][8].
• Age of onset: The condition typically appears in childhood, around 5-10 years of age [2].

Physical Characteristics

Individuals with X-linked SEDT often exhibit:

• Moderate short-stature
• Short trunk and limbs
• Spinal deformities (e.g., kyphosis, lordosis)
• Impaired bone growth

References:

[1] GE Tiller · 2023 · Cited by 15 - Describes the condition's characteristics in adults. [2] Spondyloepiphyseal dysplasia tarda is an X-linked genetic disorder, meaning males are more commonly and severely affected. It appears in childhood (around ...). [3] Mar 30, 2016 - Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary skeletal disorder. [4] Jan 1, 2018 - X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. [5] by R Savarirayan · 2003 · Cited by 29 - Spondyloepiphyseal dysplasia tarda (SEDL) is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral ... [6] Spondyloepiphyseal dysplasia tarda ; Prevalence: 1-9 / 1 000 000 ; Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive ; Age of onset: ... [7] X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition ... [8] X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (... [9] X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder affecting males only. It involves moderate short stature, spinal deformities, ...

Common Signs and Symptoms

X-linked spondyloepiphyseal dysplasia tarda (SED-T) is characterized by several distinct signs and symptoms. These include:

• Short stature: Affected individuals typically experience steady growth until late childhood or early adolescence, followed by a plateau in growth.
• Skeletal abnormalities: SED-T is associated with various skeletal deformities, including:
  • Flattened vertebrae (platyspondyly): Vertebrae may appear flattened and have hump-shaped bulges.
  • Progressive thinning of the discs between vertebrae: The intervertebral discs may become progressively thinner over time.
• Spinal deformities: SED-T can lead to various spinal deformities, such as:
  • Scoliosis: A curvature of the spine that can be either right or left.
  • Thoracic kyphosis: An abnormal forward curvature of the upper back (thoracic region).
  • Lumbar hyperlordosis: An excessive inward curvature of the lower back (lumbar region).
• Short neck and arm span: Affected individuals may have a short neck and arm span compared to their height.
• Coxa vara: A deformity of the hip joint where the femur (thigh bone) is angled inwards, causing the leg to appear shorter than normal.

Additional Findings

In some cases, SED-T can also be associated with additional findings, including:

• Hearing and vision problems: Some individuals may experience hearing or vision difficulties.
• Back pain: Affected individuals may experience back pain due to spinal deformities.

These signs and symptoms are typically apparent in late childhood or early adolescence, although the condition may not become noticeable until later in life.

X-linked spondyloepiphyseal dysplasia tarda (SEDT) can be diagnosed through a combination of clinical evaluation and diagnostic tests.

Clinical Evaluation A doctor makes a diagnosis of SEDT with a complete medical history, physical examination, and diagnostic tests. The clinical description of SEDT includes disproportionately short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest [8].

Diagnostic Tests The following diagnostic tests may be used to confirm the diagnosis of X-linked SEDT:

• X-rays of the spine: This test can help identify skeletal abnormalities and short stature [2].
• Genetic testing: A genetic test can be used to look for specific mutations in the TRAPPC2 gene that are known or expected to be disease-causing [6].

Sequence Analysis Sequence analysis of the TRAPPC2 gene is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splicing mutations [7].

These diagnostic tests can help confirm the diagnosis of X-linked SEDT and rule out other conditions that may present with similar symptoms.

References: [2] - Diagnostic procedures may include: X-rays of the spine... [6] - For a molecular diagnosis of SEDT, a genetic test can be used to look for specific mutations in the TRAPPC2 gene... [7] - Sequence analysis of TRAPPC2 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splicing mutations...

Based on the search results, it appears that there is no specific drug treatment for X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT). However, supportive care and management of complications can help alleviate symptoms.

• Management of hip and joint problems may involve surgical intervention, such as joint replacement [5].
• Rehabilitation procedures may provide symptomatic relief [10].
• Medications may be prescribed to manage pain or other related symptoms in some patients [10].

It's worth noting that the primary treatment for X-linked SEDT is supportive care, with a focus on managing the complications of the condition. There is no specific drug treatment mentioned in the search results.

References: [5] Surgical intervention may incl joint replacement (hip, knee, shoulder). From: X-Linked Spondyloepiphyseal Dysplasia Tarda · Copyright 1993-2024, University of ... [10] by HJ Kim · 2012 · Cited by 3 — The treatment for SEDT is supportive. Rehabilitation and surgical procedures may provide symptomatic relief. Some patients may need medications ...

X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare, inherited skeletal disorder that affects males only. When considering the differential diagnosis for SEDT, several other conditions should be taken into account.

• Spondyloepiphyseal dysplasia congenita: This condition is characterized by short stature and spinal deformities, similar to SEDT. However, it typically presents in early childhood, whereas SEDT often becomes apparent in adolescence or adulthood [3].
• Kniest dysplasia: This is a rare genetic disorder that affects the growth and development of bones and cartilage. It can cause short stature, joint problems, and other skeletal abnormalities, which may be similar to those seen in SEDT [5].
• Dysplasias of the epiphyses: These are conditions that affect the growth plates at the ends of long bones, leading to abnormal bone formation and short stature. They can be caused by various genetic mutations and may present with symptoms similar to SEDT [10].
• Other skeletal disorders: A range of other rare skeletal disorders, such as spondyloepiphyseal dysplasia tarda-like conditions, should also be considered in the differential diagnosis for SEDT.

It's essential to note that a definitive diagnosis of X-linked SEDT can only be made through genetic testing and radiographic examination. A thorough medical history, physical examination, and imaging studies are necessary to rule out other potential causes of short stature and skeletal abnormalities [1][2][4][6][7][8][9].

References: [1] by GE Tiller · 2023 · Cited by 15 [2] Apr 6, 2023 [3] Mar 30, 2016 [4] Oct 26, 2023 [5] by R Savarirayan · 2003 · Cited by 29 [6] by GE Tiller · 2020 · Cited by 15 [7] X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder affecting males only. It involves moderate short stature, spinal deformities, ... [8] Jul 3, 2017 [9] The tarda form of the disorder is secondary to a mutation in the SEDL gene, which encodes for a 140-amino-acid protein named sedlin and is X-linked recessive. [10] by IH Oh · Cited by 3