Scoliosis
Symptoms of Scoliosis :
- Uneven shoulders
- One shoulder blade may appear more prominent than the other
- Uneven waist
- One hip higher than the other
- Constant leaning to one side
- One side of the rib cage jutting forward
- A prominence on one side of the back when bending forward
- Uneven leg length
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- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 20% of the participating patients reported scoliosis.2
- Trend Community Voice Report highlights scoliosis as one of the most frequently mentioned symptoms, with with almost 70 mentions by community members between 2019 and 2023.3
Scoliosis in patients with a chromosome 8p rearrangement tends to progress as they age.
X-Ray If scoliosis is detected during a screening, the provider may order an X-ray to determine the severity of the curve. They will assess the following:
- Shape of the curve : Whether it forms an “S” or “C” shape
- Direction of the curve : Whether the spine curves to the left, right, or both
- Location of the curve : Whether the curve is in the upper spine, lower spine, or both
- Degree of the curve : Whether the curve is mild, moderate, or severe
Treatment The severity and location of the curve will guide treatment. Providers should follow standard practices for managing scoliosis in individuals with a chromosome 8p rearrangement:
- Observation/Monitoring: Patients with a curve less than 25 degrees are typically monitored at their wellness visits. Scoliosis has the potential to worsen as young children grow. Physical therapy is recommended as a treatment option.
- Bracing/Casting: Patients with a curve between 25 and 45 degrees may require bracing to manage their scoliosis. A scoliosis brace is custom-designed for the patient’s specific curve and is used to correct the curve or prevent it from worsening. In some cases, a provider may recommend casting as an alternative to bracing. Like a brace, the cast is intended to prevent further curvature of the spine and is typically changed every two to three months.
- Surgery: Patients with a curve over 45 degrees may require surgical intervention.
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- Spinal fusion surgery is a common treatment for severe scoliosis. This procedure uses metal rods, hooks, screws, and wires to straighten the spine and stabilize it to prevent further abnormal curving. Over the next 6 to 12 months, the spine gradually fuses, similar to the healing process of a broken bone. During this time, the child may need to wear a brace to support the healing process.
- Growing rods are another surgical option for controlling spinal curvature as a child grows. These temporary implants are attached to the spine. Approximately every six months, a surgeon lengthens the rods, allowing the child’s spine to continue growing.1
- Boston Children’s Hospital. Scoliosis: Conditions.
https://www.childrenshospital.org/conditions/scoliosis. - Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
- TREND Community. Community Voice Report: Chromosome 8p. Vol. 2, Issue 1, September 2023. Available at: https://drive.google.com/file/d/1VhzeMAA1eBi8lUlh2RwTOqm-X7dnCYKg/view.
- Mayo Clinic. Scoliosis: Symptoms and Causes.
https://www.mayoclinic.org/diseases-conditions/scoliosis/symptoms-causes/syc-20350716.
Scoliosis is often diagnosed during adolescence.
Symptoms of Scoliosis :
- Uneven shoulders
- One shoulder blade may appear more prominent than the other
- Uneven waist
- One hip higher than the other
- Constant leaning to one side
- One side of the rib cage jutting forward
- A prominence on one side of the back when bending forward
- Uneven leg length
25% of 8p Heroes in the Chromosome 8p Registry report Scoliosis.
Scoliosis in patients with a chromosome 8p disorder tends to progress as they age.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of seizures in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 20% of the participating patients reported scoliosis.2
- Trend Community Voice Report highlights scoliosis as one of the most frequently mentioned symptoms, with with almost 70 mentions by community members between 2019 and 2023.
Screening
Scoliosis screening should be a routine part of an 8p Hero’s wellness visit. During the screening, the provider will ask the patient to stand tall and then bend forward as if touching their toes. The provider will assess the patient’s posture, alignment, and spinal curvatures.
If a curve is observed, the provider may use a scoliometer to measure its degree. A curve of more than five degrees on the scoliometer may indicate scoliosis.
X-Ray
If scoliosis is detected during a screening, the provider may order an X-ray to determine the severity of the curve. They will assess the following:
- Shape of the curve : Whether it forms an “S” or “C” shape
- Direction of the curve : Whether the spine curves to the left, right, or both
- Location of the curve : Whether the curve is in the upper spine, lower spine, or both
- Degree of the curve : Whether the curve is mild, moderate, or severe
Treatment
The severity and location of the curve will guide treatment. Providers should follow standard practices for managing scoliosis in individuals with a chromosome 8p disorder:
Observation/Monitoring: Patients with a curve less than 25 degrees are typically monitored at their wellness visits. Scoliosis has the potential to worsen as young children grow. Physical therapy is recommended as a treatment option.
Bracing/Casting: Patients with a curve between 25 and 45 degrees may require bracing to manage their scoliosis. A scoliosis brace is custom-designed for the patient’s specific curve and is used to correct the curve or prevent it from worsening. In some cases, a provider may recommend casting as an alternative to bracing. Like a brace, the cast is intended to prevent further curvature of the spine and is typically changed every two to three months.
Surgery: Patients with a curve over 45 degrees may require surgical intervention.
- Spinal fusion surgery is a common treatment for severe scoliosis. This procedure uses metal rods, hooks, screws, and wires to straighten the spine and stabilize it to prevent further abnormal curving. Over the next 6 to 12 months, the spine gradually fuses, similar to the healing process of a broken bone. During this time, the child may need to wear a brace to support the healing process.
- Growing rods are another surgical option for controlling spinal curvature as a child grows. These temporary implants are attached to the spine. Approximately every six months, a surgeon lengthens the rods, allowing the child’s spine to continue growing.1
- Boston Children’s Hospital. Scoliosis: Conditions. https://www.childrenshospital.org/conditions/scoliosis .
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf. .
- TREND Community. Community Voice Report: Chromosome 8p. Vol. 2, Issue 1, September 2023. Available at: https://drive.google.com/file/d/1VhzeMAA1eBi8lUlh2RwTOqm-X7dnCYKg/view .
- Mayo Clinic. Scoliosis: Symptoms and Causes. https://www.mayoclinic.org/diseases-conditions/scoliosis/symptoms-causes/syc-20350716 .
Short Stature
- About 10 inches from age 0 to 1
- About 5 inches from age 1 to 2
- About 3.5 inches from age 2 to 3
- About 2 inches per year from age 3 until puberty1
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 14% of the participating patients reported Short Stature.2
Screening
- Height (length for those who cannot stand), weight and BMI should be taken at every visit.
- A noticeable plateau or halt in growth compared to prior percentiles should lead to further evaluation, such as investigating nutritional deficiencies or potential endocrine issues.
Treatment
- The treatment for short stature depends on the underlying cause, as well as the child’s age, overall health, and medical history. In many cases, close monitoring of the child’s growth and development is all that is required.
- If malnutrition is identified, nutritional therapy should be initiated to support growth.
- If a hormone imbalance is suspected, consultation with an endocrinologist is recommended for further evaluation and management.
- Children’s Hospital Colorado
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine,
https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
Typical growth is:
- About 10 inches from age 0 to 1
- About 5 inches from age 1 to 2
- About 3.5 inches from age 2 to 3
- About 2 inches per year from age 3 until puberty
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders While the exact prevalence of Short Stature in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 14% of the participating patients reported Short Stature.2
Screening
- Height (length for those who cannot stand), weight and BMI should be taken at every visit.
- A noticeable plateau or halt in growth compared to prior percentiles should lead to further evaluation, such as investigating nutritional deficiencies or potential endocrine issues.
Treatment
- The treatment for short stature depends on the underlying cause, as well as the child’s age, overall health, and medical history. In many cases, close monitoring of the child’s growth and development is all that is required.
- If malnutrition is identified, nutritional therapy should be initiated to support growth.
- If a hormone imbalance is suspected, consultation with an endocrinologist is recommended for further evaluation and management.
- Children’s Hospital Colorado Short Stature
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Other Musculoskeletal Conditions
Weakness: A decrease in muscle strength affecting one or more muscles, is commonly reported by individuals with chromosome 8p disorders.
Hip Anomalies: Hip anomalies can occur in the 8p patient population due to limited or delayed weight-bearing. This is because the forces that normally shape the hip joint during development are altered.
Vertebral Anomalies: Defined as structural changes in the bones of the spine. These changes can lead to misalignment of the spine.
Hypermobile Joints: Joints that move beyond the normal range of motion. This condition, also known as joint hypermobility or double-jointedness, can lead to joint pain and instability.
Pes Planus: The arches of the feet are flattened, causing the entire sole of the foot to make contact with the ground. Pes planus can lead to foot pain, instability, and problems with walking or running.
Equinovarus/Equinovalgus: Equinovarus refers to the inward turning and downward pointing of the foot, while Equinovalgus involves the foot turning outward and downward. Both conditions affect walking and balance and may require physical therapy or surgical intervention.
Inguinal Hernia: A condition in which a portion of the intestine protrudes through a weakened spot in the abdominal muscles near the groin. This type of hernia is common and can cause discomfort, especially when bending over or lifting heavy objects. Surgery is not typically required in the Chromosome 8p patient population, though it is a possibility.
A decrease in muscle strength affecting one or more muscles, is commonly reported by individuals with chromosome 8p disorders.
Hip anomalies can occur in the 8p patient population due to limited or delayed weight-bearing. This is because the forces that normally shape the hip joint during development are altered.
Defined as structural changes in the bones of the spine. These changes can lead to misalignment of the spine.
Joints that move beyond the normal range of motion. This condition, also known as joint hypermobility or double-jointedness, can lead to joint pain and instability.
The arches of the feet are flattened, causing the entire sole of the foot to make contact with the ground. Pes planus can lead to foot pain, instability, and problems with walking or running.
Equinovarus refers to the inward turning and downward pointing of the foot, while Equinovalgus involves the foot turning outward and downward. Both conditions affect walking and balance and may require physical therapy or surgical intervention.
A condition in which a portion of the intestine protrudes through a weakened spot in the abdominal muscles near the groin. This type of hernia is common and can cause discomfort, especially when bending over or lifting heavy objects. Surgery is not typically required in the Chromosome 8p patient population, though it is a possibility.
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This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Updated 10/30/2024
