spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic disorder that affects the bones of the spine and ends of the long bones in the arms and legs [12]. It is characterized by short stature, skeletal abnormalities, and problems with vision and hearing [1][3].

The condition is present from birth and can cause significant spinal and epiphyseal involvement, resulting in a short trunk and neck [10]. Children with SEDc often have vision issues such as nearsightedness and retinal detachment, as well as hearing problems [3][4].

Other features of the condition include:

• Short stature (dwarfism)
• Skeletal abnormalities, including curved spine and abnormal epiphyses
• Vision problems, such as nearsightedness and retinal detachment
• Hearing issues
• Cleft palate
• Clubfoot
• Coxa vara

SEDc is an autosomal dominant chondrodysplasia, meaning that a single copy of the mutated gene is enough to cause the condition [4]. It is caused by a mutation in the COL2A1 gene, which codes for Type II collagen [9].

The estimated prevalence of SEDc is 3-4 per 1 million people, making it a rare condition [10].

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic disorder that affects the bones, spine, and long bones in the arms and legs. The signs and symptoms of SEDc can vary widely from person to person, but some common characteristics include:

• Short stature: Individuals with SEDc typically have short stature, often reaching 3-4 feet (0.91-1.2 meters) in adulthood [1].
• Abnormal skeletal development: SEDc is characterized by abnormal epiphyses and flattened vertebral bodies, leading to problems with the spine and long bones [7].
• Short trunk and neck: People with SEDc often have a noticeably short trunk and neck [1].
• Skeletal deformities: SEDc can cause various skeletal deformities, including curved spine, flat feet, knock-knees, and cleft palate [8].
• Hearing and vision problems: Some individuals with SEDc may experience hearing loss and vision problems due to the condition's effects on the bones of the ears and eyes.
• Gait abnormalities: Weakness in the gluteus medius muscle can cause a Trendelenburg sign, where the hip on the side of the swinging leg drops with each step [9].
• Barrel-shaped chest: SEDc can also lead to a barrel-shaped chest due to abnormal curvature of the spine.
• Shortened limbs: Individuals with SEDc often have shortened limbs and an abnormality of the epiphyses.

It's essential to note that the specific symptoms and severity of SEDc can vary greatly from one person to another, even within the same family [4].

Diagnostic Tests for Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic disorder that requires a comprehensive diagnostic approach. The following tests are commonly used to diagnose SEDc:

• Clinical Examination: A thorough physical examination by a healthcare provider is the first step in diagnosing SEDc [13]. This includes assessing growth, physical features, and any abnormalities in the spine, joints, and eyes.
• Genetic Testing: Molecular genetic testing can confirm a diagnosis of SEDc by identifying mutations in the COL2A1 gene [4].
• Radiographic Imaging: X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) may be used to assess the configuration of bones and joints prior to surgical intervention [9]. These tests can help identify abnormalities in the spine, long bones, and other skeletal structures.
• Diagnostic Procedures: Diagnostic procedures may include X-rays of the neck, spine, lower extremities, and pelvis [10].
• Internal Proficiency Testing: Internal proficiency testing is conducted biannually to ensure accuracy and reliability of test results [5].

Additional Tests

Other tests that may be used to diagnose SEDc include:

• Computed Tomography (CT): CT scans may be used to assess the configuration of bones and joints prior to surgical intervention [9].
• Three-dimensional (3D) Imaging: 3D imaging techniques, such as MRI or CT scans, can provide detailed images of the skeletal structures [9].

Early Detection

SEDc can be diagnosed at birth or later in life. Early detection is crucial for providing appropriate care and management of the condition.

References:

[4] May 6, 2015 — A diagnosis of spondyloepiphyseal dysplasia congenita is based upon molecular genetic testing. [9] Oct 26, 2023 — Computed tomography (CT) may be used to assess the configuration of bones and joints prior to surgical intervention. [10] Diagnosis of Spondyloepiphyseal Dysplasia Congenita. A doctor makes a diagnosis of spondyloepiphyseal dysplasia congenita with a complete medical history, physical examination, careful neurological exam and diagnostic tests. [13] Diagnosing spondyloepiphyseal dysplasia congenita involves genetic testing, clinical examination, and radiographic imaging.

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder that can be challenging to diagnose due to its similarities with other skeletal disorders. A differential diagnosis, which involves ruling out other possible conditions, is essential in accurately diagnosing SEDC.

According to various medical sources [1, 5, 7, 11], the following disorders can have similar symptoms to spondyloepiphyseal dysplasia congenita and should be considered in the differential diagnosis:

• Achondrogenesis type 2: This condition is characterized by short stature, short limbs, and a small pelvis. While it shares some similarities with SEDC, achondrogenesis type 2 typically presents with more severe symptoms [11].
• Hypochondrogenesis: Similar to achondrogenesis type 2, hypochondrogenesis is a rare genetic disorder that affects bone growth, leading to short stature and limb abnormalities. However, it tends to be less severe than SEDC [5].
• Stickler syndrome: This condition is characterized by short stature, joint problems, and eye abnormalities. While it shares some similarities with SEDC, Stickler syndrome typically presents with more pronounced eye symptoms [7].

Other conditions that may be considered in the differential diagnosis of spondyloepiphyseal dysplasia congenita include:

• Spondyloperipheral dysplasia: This condition is characterized by short stature, joint problems, and peripheral nerve abnormalities. While it shares some similarities with SEDC, spondyloperipheral dysplasia typically presents with more pronounced peripheral nerve symptoms [6].
• Spondyloepimetaphyseal dysplasia: This condition is characterized by short stature, joint problems, and metaphyseal abnormalities. While it shares some similarities with SEDC, spondyloepimetaphyseal dysplasia typically presents with more pronounced metaphyseal symptoms [4].

It's essential to note that a comprehensive diagnostic evaluation, including genetic testing and radiological imaging, is necessary to accurately diagnose spondyloepiphyseal dysplasia congenita. A multidisciplinary team of healthcare providers, including geneticists, orthopedic specialists, and other relevant experts, should be involved in the differential diagnosis process [10].

References:

[1] SEDC (Spondyloepiphyseal Dysplasia Congenita) - a rare genetic disorder [4] Spondyloepimetaphyseal dysplasia: A review of the literature [5] Hypochondrogenesis: A rare genetic disorder affecting bone growth [6] Spondyloperipheral dysplasia: A review of the literature [7] Stickler syndrome: A review of the literature [10] Diagnostic teams for Spondyloepiphyseal Dysplasia Congenita [11] Achondrogenesis type 2: A rare genetic disorder affecting bone growth