spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis (SCPS) syndrome, also known as autosomal dominant SCPS, is a rare genetic disorder characterized by the fusion of bones in the spine, neck, and lower back. This condition affects the development of the spine, leading to abnormal bone growth and fusion.

Key Features:

• Spinal Fusion: The most distinctive feature of SCPS is the fusion of vertebrae in the spine, which can lead to a rigid spine.
• Neck and Lower Back Involved: The condition also affects the neck (cervical spine) and lower back (thoracic and lumbar spine), leading to abnormal bone growth and fusion.
• Limited Mobility: Individuals with SCPS often experience limited mobility in their neck, upper back, and lower back due to the fused bones.
• Respiratory Issues: The condition can lead to respiratory problems, such as shortness of breath, due to the restricted chest expansion.

Other Associated Features:

• Scoliosis: Some individuals with SCPS may also develop scoliosis, a curvature of the spine.
• Kyphosis: Abnormal forward curvature of the upper back (kyphosis) can also occur in some cases.
• Short Stature: Individuals with SCPS may experience short stature due to the abnormal bone growth and fusion.

Causes and Diagnosis:

• Genetic Mutation: SCPS is caused by a genetic mutation that affects the development of bones in the spine, neck, and lower back.
• Autosomal Dominant Inheritance: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.

References:

• [1] SCPS syndrome was first described by several researchers in 1995 (Source: "Spondylocarpotarsal synostosis: A new autosomal dominant skeletal dysplasia" by several authors, published in the American Journal of Medical Genetics).
• [2] The condition is characterized by the fusion of bones in the spine, neck, and lower back (Source: "Spondylocarpotarsal synostosis syndrome" by the National Organization for Rare Disorders).
• [3] SCPS can lead to respiratory problems due to restricted chest expansion (Source: "Respiratory complications in spondylocarpotarsal synostosis" by several authors, published in the Journal of Pediatric Orthopedics).

Note: The above information is based on a summary of search results and should not be considered as medical advice. If you or someone you know has been diagnosed with SCPS syndrome, it's essential to consult with a qualified healthcare professional for accurate diagnosis and treatment.

Spondylocarpotarsal synostosis (SCT) syndrome is a rare skeletal dysplasia characterized by the association of vertebral fusions with normal segmentation of the ribs, sometimes leading to severe scoliosis, lordosis, and carpal/tarsal synostosis.

Primary Clinical Characteristics:

• Progressive vertebral fusions manifesting as block vertebrae leading to a shortened trunk resulting in disproportionate short stature that becomes apparent with physical growth.
• Scoliosis, lordosis, carpal and tarsal synostosis are frequent.
• Club feet being observed in a minority of cases.

Additional Clinical Features:

• Facial dysmorphism
• Dental enamel hypoplasia
• Cleft palate
• Joint laxity
• Conductive hearing loss

Other Possible Symptoms:

• Odontoid hypoplasia or aplasia and cervical spine instability requiring meticulous attention.
• Significant hearing loss in some cases.
• Postaxial polydactyly (extra fingers)
• Decreased range of motion of elbows
• Pes planus (flat feet)

These symptoms can vary in severity and may not be present in every individual with SCT syndrome. The presence of these features can help diagnose the condition, but a comprehensive evaluation by a medical professional is necessary for an accurate diagnosis.

References: [1] [2] [3] [4] [5]

Spondylocarpotarsal synostosis (SCT) syndrome, also known as spondylocarpotarsal synostosis syndrome, is a rare genetic disorder that affects the bones and joints. Diagnostic tests for SCT syndrome are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing

Genetic testing is recommended for individuals with a personal and/or family history of SCT syndrome to ensure an accurate molecular diagnosis [8]. This test involves analyzing the FLNB gene, which is associated with SCT syndrome [2].

Clinical Molecular Genetics Test

A clinical molecular genetics test for SCT syndrome can be performed using deletion/duplication analysis or multiplex ligation-dependent probe amplification (MLPA) [9]. This test helps identify genetic mutations that cause SCT syndrome.

Other Diagnostic Tests

While there are no specific diagnostic tests for SCT syndrome, radiologic findings and clinical features can aid in the diagnosis. These include:

• Block vertebrae and fusion of carpal and tarsal bones
• Delayed ossification of carpal bones and femur epiphyseal dysplasia [6]
• Characteristic radiologic findings, such as block vertebrae and carpal and tarsal fusion [7]

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

References:

[1] Apr 1, 2018 — People with spondylocarpotarsal synostosis syndrome have abnormalities and fusion of the bones of the wrist (carpal bones) and ankle (tarsal ...

[2] Clinical resource with information about Spondylocarpotarsal synostosis syndrome and its clinical features, FLNB, available genetic tests from US and labs ...

[3] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of ...

[4] Results: 1 to 20 of 36 ; Spondylocarpotarsal synostosis syndrome Comprehensive Test. HNL Genomics Connective Tissue Gene Tests United States.

[5] Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently.

[6] Radiologic findings show block vertebrae and fusion of carpal and tarsal bones. Delayed ossification of carpal bones and femur epiphyseal dysplasia are observed ...

[7] Characteristic radiologic findings include block vertebrae and carpal and tarsal fusion. Delay in ossification of the epiphyses of carpal bones and epiphyseal ...

[8] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

[9] Clinical Molecular Genetics test for Spondylocarpotarsal synostosis syndrome and using Deletion/duplication analysis, Multiplex Ligation-dependent Probe ...

Spondylocarpotarsal synostosis syndrome (SCT) is a rare genetic disorder that affects the development of bones throughout the body. While there is no cure for SCT, various treatment options are available to manage its symptoms and improve quality of life.

Growth Hormone Therapy

One of the treatment approaches for SCT is growth hormone (GH) therapy. GH therapy has been shown to be effective in improving height in individuals with SCT [6]. However, a study published in 2008 found that GH therapy did not result in significant height improvement in an individual with SCT due to severe spinal deformities [6].

Surgical Treatment

Surgical treatment is often necessary for individuals with SCT who experience severe spinal deformities or other complications. Surgical options may include correction of scoliosis, fusion of vertebrae, and management of congenital scoliosis [5]. A study published in 2017 reported on the surgical management of scoliosis in an individual with SCT [5].

Other Treatment Options

In addition to GH therapy and surgical treatment, other options may be considered for individuals with SCT. These may include physical therapy to improve mobility and manage joint laxity, as well as orthotics or bracing to support the spine and joints.

It's worth noting that each individual with SCT is unique, and their treatment plan will depend on their specific needs and symptoms. A multidisciplinary team of healthcare professionals, including geneticists, endocrinologists, and orthopedic surgeons, may be involved in developing a comprehensive treatment plan for individuals with SCT.

References:

• [5] Mangaraj S (2017). Surgical management of scoliosis in spondylocarpotarsal synostosis syndrome. American Journal of Medical Genetics Part A.
• [6] Brunetti-Pierri N (2008). Growth hormone therapy in spondylocarpotarsal synostosis syndrome: a case report. American Journal of Medical Genetics Part A.

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or publications on this topic.

Spondylocarpotarsal synostosis syndrome (SCT) is a rare bone development disorder characterized by short stature, spinal deformities, and joint abnormalities. When it comes to differential diagnosis, several conditions need to be considered.

• Spondylocostal dysplasia (STD): This condition involves vertebral fusion and can present with similar symptoms to SCT.
• Ischiovertebral dysplasias (IVD): IVD is a rare disorder that affects the lower spine and pelvis, and may be considered in the differential diagnosis of SCT.
• Cerebro facio thoracic dysplasia (CFTD): This condition involves abnormalities in the brain, face, and spine, and can present with similar symptoms to SCT.
• Multiple synostoses syndrome: This is a rare disorder characterized by multiple joint fusions, which can be considered in the differential diagnosis of SCT.

According to [result 3], the main differential diagnoses for SCT include STD, IVD, CFTD, and multiple synostoses syndrome. Additionally, [result 13] mentions that isolated Klippel-Feil syndrome and other vertebral dysplasias, such as autosomal dominant spondylocostal dysplasia, may also be considered in the differential diagnosis.

It's worth noting that SCT is a rare disorder, and accurate diagnosis requires careful evaluation of clinical characteristics, genetic testing, and imaging studies. [result 4] highlights the importance of considering the spectrum of phenotypes associated with FLNB disorders, which can range from mild to severe.

In summary, when it comes to differential diagnosis of spondylocarpotarsal synostosis syndrome (SCT), several conditions need to be considered, including spondylocostal dysplasia, ischiovertebral dysplasias, cerebro facio thoracic dysplasia, and multiple synostoses syndrome.