autosomal dominant spondyloepiphyseal dysplasia tarda

Autosomal dominant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth, leading to various physical symptoms. Some of the common signs and symptoms associated with this condition include:

• Short stature: Affected individuals may have short stature, which can become apparent by puberty.
• Skeletal abnormalities: Abnormalities in the skeletal system, such as irregular vertebral endplates, can be seen on X-rays at an earlier age.
• Arthritis: Joint problems and arthritis are common symptoms of autosomal dominant SEDT.
• Barrel-shaped chest: A distinctive barrel-shaped chest is a characteristic feature of this condition.
• Cervical subluxation: Subluxation (partial dislocation) of the cervical spine can occur in some cases.
• Short-trunk short stature: Short stature with a short neck and trunk are common features of autosomal dominant SEDT.
• Scoliosis and kyphosis: Curvature of the spine, known as scoliosis or kyphosis, can also be present.

These symptoms may become apparent by puberty, but some abnormalities may be visible on X-rays at an earlier age. It's essential to note that each individual may experience a unique set of symptoms, and not everyone will exhibit all of these characteristics.

References: * [3] - Abnormalities in the skeletal system can be seen on X-rays at an earlier age. * [4] - Clinical features include arthritis, barrel-shaped chest, cervical subluxation, short-trunk short stature, irregular vertebral endplates, and more. * [11] - Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age.

Autosomal dominant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) can be diagnosed through various diagnostic tests, including:

• X-rays: X-rays are used to produce images of bones and can show irregular ossification patterns, which is a characteristic feature of autosomal dominant SEDT [4][9].
• Magnetic Resonance Imaging (MRI): MRI uses a combination of large magnets, radiofrequencies, and computer technology to produce detailed images of the internal structures of the body. It can be used to assess the extent of bone involvement and detect any associated complications such as scoliosis or cervical myelopathy [6].
• Sequence analysis of TRAPPC2: Sequence analysis of the TRAPPC2 gene is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splicing mutations that can cause autosomal dominant SEDT [5].

These diagnostic tests are used in conjunction with clinical evaluation and family history to confirm the diagnosis of autosomal dominant SEDT. Early detection through these tests is crucial for providing appropriate management and care for individuals affected by this condition.

References: [4] Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. [5] Apr 6, 2023 — Single-gene testing. Sequence analysis of TRAPPC2 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and ... [6] Testing and diagnosis · X-rays, which produce images of bones. · Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and ... [9] The diagnostic procedures may include: X-rays of the spine, pelvis and lower extremities; Arthrograms ...

Based on the search results, it appears that there are some potential treatment options for autosomal dominant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT).

• Bisphosphonates: According to search result [10], bisphosphonates may be a new target in the treatment of autosomal dominant SEDT, particularly for cases caused by a constitutively activating mutation. This class of drugs has been used to treat fibrous dysplasia.
• Surgery and pain management: Search results [3], [13], and [14] suggest that treatment for autosomal dominant SEDT may involve surgery and pain management, based on the signs and symptoms present in each person.

It's worth noting that the search results also mention that the treatment for SEDT is generally supportive, with rehabilitation and surgical procedures providing symptomatic relief (search result [9]).

However, it's essential to consult a medical professional for personalized advice and guidance on treating autosomal dominant spondyloepiphyseal dysplasia tarda.

References: [3] Kohn G, Elrayyes ER, Makadmah I, Rösler A, Grünebaum M. Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation. [9] 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 ... [10] Spondyloepiphyseal dysplasia Tarda: ... have proposed that restoration of normal rates of secretory protein synthesis and secretion may be a new target in the treatment of autosomal dominant ... caused by a constitutively activating mutation is the intravenous administration of bisphosphonates to treat fibrous dysplasia. This class of drugs ... [13] Clinical resource with information about Spondyloepiphyseal dysplasia tarda autosomal dominant and its clinical features, ... in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management ... [14] Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are

Autosomal dominant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is a rare genetic disorder that affects bone growth. When considering the differential diagnosis for this condition, several other skeletal dysplasias should be taken into account.

• Morquio disease: This is a type of mucopolysaccharidosis that can cause short stature, skeletal abnormalities, and other systemic features. It is inherited in an autosomal recessive pattern, but its clinical presentation can overlap with that of autosomal dominant SEDT.
• Chondrodysplasia punctata: This condition is characterized by the presence of small calcifications in the cartilage of affected individuals. While it primarily affects the short bones and hands, its radiographic features can be similar to those seen in autosomal dominant SEDT.
• Pseudoachondroplasia (short-limb dwarfism): This is a rare genetic disorder that causes short stature, joint pain, and other skeletal abnormalities. Its clinical presentation can mimic that of autosomal dominant SEDT, particularly in terms of the short trunk and arm span.

These conditions should be considered in the differential diagnosis for autosomal dominant spondyloepiphyseal dysplasia tarda, as they share some similarities with this condition. However, it's essential to note that each of these disorders has distinct clinical features and genetic inheritance patterns.

References: * Table 1: Morquio disease * Oct 26, 2023: Diagnostic Considerations (includes Chondrodysplasia punctata and Pseudoachondroplasia) * Apr 6, 2023: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than the leg span.