spondyloepiphyseal dysplasia Stanescu type

Spondyloepiphyseal dysplasia Stanescu type, also known as SED-S, is a rare genetic disorder that affects the development and growth of bones and joints. Here are some key features of this condition:

Clinical Features:

1. Progressive joint contractures: Patients with SED-S experience progressive stiffness and limited mobility in their joints, particularly in the knees, hips, and finger joints.
2. Premature degenerative joint disease: The joints affected by SED-S tend to degenerate prematurely, leading to pain and discomfort.
3. Short trunk: Individuals with SED-S often have a short trunk or torso compared to their upper body.
4. Gait problems: Patients may experience difficulties walking due to the joint contractures and limited mobility.

Radiographic Features:

1. Platyspondyly: The vertebrae in patients with SED-S are flattened, which can lead to spinal deformities.
2. Anterior wedging: The front part of the vertebrae may be wedge-shaped due to the abnormal growth and development of bones.
3. Endplate irregularities: The ends of the bones (endplates) may appear irregular or distorted on X-rays.

Genetic Aspects:

1. Inheritance pattern: SED-S is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene is enough to cause the condition.
2. Gene mutation: The Stanescu type of spondyloepiphyseal dysplasia is caused by mutations in the COL2A1 gene, which codes for type II collagen.

Other Features:

1. Accumulation of glycoprotein in chondrocytes: Chondrocytes (cartilage cells) accumulate abnormal amounts of glycoproteins, leading to joint problems.
2. Limited mobility and pain: Patients with SED-S often experience limited mobility and pain in their affected joints.

It's essential to note that each individual with SED-S may exhibit unique characteristics, and the severity of symptoms can vary from person to person.

Spondyloepiphyseal dysplasia Stanescu type, a rare genetic disorder, presents with various signs and symptoms that can vary in severity from one individual to another. The common clinical features associated with this condition include:

• Short stature: Individuals with spondyloepiphyseal dysplasia Stanescu type typically experience growth deficiency, leading to short stature.
• Joint pain and difficulties walking: As mentioned in [14], individuals with this condition often experience joint pain and have difficulty walking due to progressive joint contracture and premature degenerative joint disease.
• Progressive kyphosis: Spondyloepiphyseal dysplasia Stanescu type is characterized by a progressive curvature of the spine, known as kyphosis [15].
• Joint dislocations: This condition can also lead to joint dislocations, particularly in the knee, hip, and finger joints [11][12].
• Club feet: Some individuals with spondyloepiphyseal dysplasia Stanescu type may experience club feet, a congenital deformity where one or both feet are turned inward.
• Abnormal head or neck shape: In some cases, affected individuals may have an abnormal head or neck shape, including a stiff neck [10].

It's essential to note that the specific symptoms and severity of spondyloepiphyseal dysplasia Stanescu type can vary greatly from one person to another.

Diagnostic Tests for Spondyloepiphyseal Dysplasia, Stanescu Type

Spondyloepiphyseal dysplasia, Stanescu type is a rare genetic disorder that affects the musculoskeletal system. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Clinical Molecular Genetics test: This test is specifically designed for Spondyloepiphyseal dysplasia, Stanescu type and uses Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) offered by Laboratorio de Genetica Clinica SL. [1]
• Genetic testing: Genetic testing can identify the genetic mutation responsible for Spondyloepiphyseal dysplasia, Stanescu type. This may involve whole-exome sequencing or targeted gene analysis. [7]
• Imaging studies: Imaging studies such as X-rays, CT scans, and MRI scans can help assess the extent of joint involvement and other skeletal abnormalities. [10]

It's essential to note that a diagnosis of Spondyloepiphyseal dysplasia, Stanescu type should only be made by a qualified healthcare professional after a comprehensive evaluation.

References:

[1] Laboratorio de Genetica Clinica SL. (n.d.). Clinical Molecular Genetics test for Spondyloepiphyseal dysplasia, Stanescu type. [7] Jurgens et al. (2015). Whole-exome sequencing in a mother and daughter with the Stanescu type of spondyloepiphyseal dysplasia. [10] Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints.

Differential Diagnosis of Spondyloepiphyseal Dysplasia Stanescu Type

Spondyloepiphyseal dysplasia Stanescu type (SED-S) is a rare and complex condition that requires careful consideration of differential diagnoses. The following conditions should be considered in the differential diagnosis of SED-S:

• Progressive Pseudorheumatoid Dysplasia: This condition presents with progressive joint contractures, premature degenerative joint disease, and short stature, similar to SED-S [10].
• Spondyloepiphyseal Dysplasia Congenita (SEDC): SEDC is a rare type II collagenopathy that can present with spinal involvement, short stature, and hand and foot abnormalities, which may be similar to SED-S [4].

Key Features for Differential Diagnosis

When considering the differential diagnosis of SED-S, the following key features should be taken into account:

• Progressive joint contractures: This is a hallmark feature of SED-S, particularly in the knee, hip, and finger joints [12].
• Premature degenerative joint disease: SED-S is characterized by premature degenerative joint disease, which can lead to significant morbidity [12].
• Short stature: Short stature is a common feature of SED-S, often accompanied by spinal involvement and hand and foot abnormalities [3].

Diagnostic Teams

A comprehensive diagnostic team for SED-S may include:

• Genetics: Genetic evaluation is essential to identify the underlying COL2A1 mutation that causes SED-S [14].
• Orthopedics: Orthopedic specialists can provide expertise on the management of joint contractures and degenerative joint disease [13].

References

[3] Oct 26, 2023 — Spondyloepiphyseal dysplasia (SED) - Typical features of SED are spinal involvement, short stature, and involvement of the hands and feet; SED ...

[4] by A Handa · 2021 · Cited by 9 — Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler ...

[10] Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type ... differential diagnosis of the skeletal ...

[12] Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges.

[13] Diagnostic teams for Spondyloepiphyseal dysplasia, Stanescu type may include: Genetics . Orthopedics . ... If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or ...

[14] Spondyloepiphyseal Dysplasia is a rare congenital disorder most commonly caused by a COL2A1 mutation leading to abnormal Type II collagen synthesis. ... scoliosis, and in some cases gait instability as a result of cervical myelopathy. Diagnosis is made radiographically with presence of irregular ossification at multiple epiphyses, flattened ...