SPONDYLOTHORACIC DYSOSTOSIS
Spondylothoracic Dysostosis is a condition recognized in newborns. It occurs by the bones of the spine and ribs not forming correctly and appear misshapen and abnormally joined together.
At Medical City Children’s Orthopedics and Spine Specialists, our expert Spondylothoracic Dysostosis Doctors are dedicated to diagnosing and treating spinal problems in children and ensuring comprehensive care tailored to each patient’s needs. With advanced techniques and a compassionate approach, our team is here to diagnose, treat and care for children suffering from Spondylothoracic Dysostosis.
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Spondylothoracic Dysostosis
The diaphragm is a muscle that divides the belly from the thoracic cavity. With this condition, the diaphragm pushes down and forces the abdomen out as the lungs expand in a constricting chest. Increased pressure in the abdomen can cause a hernia or umbilical hernia.
Also, a similar syndrome involving anomalies of the spine and ribs is known as Spondylocostal Dysostosis. Although the two disorders were sometimes combined and occasionally referred to as the Jarcho-Levin syndrome, they are now recognized as separate ailments.
Individuals with Spondylothoracic Dysostosis typically have abnormally formed vertebrae, and the vertebrae and ribs often fuse incorrectly. This results in a shortened neck and torso, a small chest, and a characteristic “crab-like” appearance of the rib cage. The arms and legs remain of normal length, but a shortened torso leads to a form of short-trunk dwarfism.
These upper body abnormalities can cause significant breathing difficulties in infants and increase the risk of lung infections. Because the chest cavity is smaller, the lungs canoot expand properly, which can place extra pressure on the diaphragm and contribute to hernias. Despite these physical challenges, individuals generally do not possess any intellectual disability.
A rare related condition known as spondylocostal dysostosis type 2 (SCDO2), shares features such as vertebral and rib abnormalities. These are usually less severe as compared to classic Spondylothoracic Dysostosis. Both conditions are associated with mutations in the MESP2 gene, but SCDO2 remains less well understood due to its rarity.
QUESTIONS AND ANSWERS
What causes Spondylothoracic Dysostosis?
Spondylothoracic Dysostosis is primarily caused by genetic mutations. It is generally considered a sporadic condition, meaning it occurs by chance and is not inherited from the parents. The specific genetic mutations associated with Spondylothoracic Dysostosis are typically not passed down from one generation to the next.
What are the treatment options for Spondylothoracic Dysostosis, and what is the prognosis for my child?
Treatment for Spondylothoracic Dysostosis is typically focused on managing symptoms and providing supportive care. This may involve a multidisciplinary approach with input from orthopedic specialists, respiratory therapists, and other healthcare professionals. The prognosis can vary widely depending on the severity of the malformations and associated complications. Early intervention and ongoing medical management can improve the quality of life for affected individuals, but it’s important to discuss the specific details of your child’s case with the medical team for a more accurate prognosis.
What kind of support and resources exist for families dealing with Spondylothoracic Dysostosis?
Families facing a diagnosis of Spondylothoracic Dysostosis may benefit from connecting with support groups, both online and locally, where they can share experiences and information. Additionally, reaching out to genetic counselors and patient advocacy organizations can provide valuable resources and guidance. It’s crucial to establish open communication with the healthcare team to address any concerns, explore available therapies, and ensure that the child receives comprehensive care.
Parents may have additional questions based on their specific circumstances, and it’s essential for them to have open and ongoing discussions with their child’s healthcare providers to gain a deeper understanding of the condition and its management.
The doctors at Medical City Children’s Orthopedics and Spine Specialists only treat children. As such they have become experts in all types of inherited diseases like Spondylothoracic Dysostosis
Other Names for Spondylothoracic Dysostosis
The medical community may refer to Spondylothoracic Dysostosis as the following:
- Lavy-Moseley syndrome
- STD
- Spondylocostal dystosis type 2
- Spondylothoracic dysplasia
This variety of names can sometimes confuse, especially since the condition shares similarities with others involving the spine and ribs.
The diaphragm is a muscle that divides the belly from the thoracic cavity. With this condition, the diaphragm pushes down and forces the abdomen out as the lungs expand in a constricting chest. Increased pressure in the abdomen can cause a hernia or an umbilical hernia. Also, a similar syndrome involving anomalies of the spine and ribs is known as Spondylocostal Dysostosis. Although the two disorders were sometimes combined and occasionally referred to as the Jarcho-Levin syndrome, they are now recognized as separate ailments.
How Common Is Spondylothoracic Dysostosis?
While spondylothoracic dysostosis is considered a rare condition across the globe, its frequency varies depending on geographic region and genetic background. The condition is especially prevalent in Puerto Rico, where it affects about 1 in every 12,000 people—a much higher rate than seen elsewhere. In contrast, certain genetic subtypes, such as those related to the MESP2 gene (sometimes referred to as SCDO2), are exceptionally uncommon, with only a handful of known cases worldwide.
Because of its rarity, many families and healthcare providers may not know about spondylothoracic dysostosis, making specialized care and knowledgeable support even more important.
Intellectual Abilities and Spondylothoracic Dysostosis
In most cases, children with Spondylothoracic Dysostosis do not experience cognitive or intellectual disabilities. While this condition affects the spine and rib development—leading to challenges with respiration, mobility, and chest growth—their intellectual development is typically unaffected. As always, every child is unique, so our specialists closely monitor overall growth and development to address any concerns promptly.
Spondylothoracic Dysostosis Causes
MESP2 gene
A protein that is essential for the formation of vertebrae receives instructions from the MESP2 gene. Specifically, it has a role in somite segmentation, a process that occurs early in the formation of the vertebrae and ribs. Furthermore, the MESP2 gene mutations result in the creation of abnormally short, nonfunctional proteins or the complete absence of any protein. The spine and ribs can malform and fuse together in Spondylothoracic Dysostosis when the MESP2 protein is dysfunctional or missing.
Change mutation
An alteration (mutation) in the MESP2 gene results in Spondylothoracic Dysostosis. As an example, most affected individuals have a mutation in this gene, but occasionally individuals with this condition do not, indicating that additional, as-yet-unknown genes may also cause this disorder. Genes include instructions for creating proteins, which are essential for many body functions. The proteins produced by mutated genes are often flawed, ineffective, or nonexistent. Therefore, this may have an impact on a variety of bodily organ systems depending on how the protein operates.
How Rare is MESP2-Related Spondylocostal Dysostosis Type 2 (SCDO2)?
Although the exact global frequency of Spondylothoracic Dysostosis remains uncertain, it is recognized as an exceptionally rare disorder. When focusing specifically on SCDO2 caused by mutations in the MESP2 gene, cases become even more uncommon, with just a handful documented in medical literature worldwide. This extreme rarity often means that families and clinicians may never encounter it firsthand, making specialized care and awareness all the more important.
Autosomal Recessive Inheritance
Autosomal recessive inheritance is the mode of inheritance for Spondylothoracic Dysostosis. Most genetic diseases are caused by a gene being mutated and inherited from either parent. When a person receives two copies of an atypical gene for the same characteristic, one from each parent, recessive genetic diseases result. A person can carry the illness but not exhibit any symptoms if they inherit one normal gene and one disease gene. With each pregnancy, there is a 25% chance that two carrier-healthy parents will transfer the mutated gene and result in an afflicted baby.
With each pregnancy, there is a 50% chance that the child will carry the same gene as one of the parents. For instance, a child has a 25% chance of inheriting normal genes from both parents. Incidentally, the degree of risk is the same for both men and women.
Spondylothoracic Dysostosis Symptoms
The first paragraph of this page outlines the major symptoms of Spondylothoracic Dysostosis, but with this condition, doctors find the spine shorter than normal. Most people with STDs have short, straight spines, but some have an abnormally curved spine. It is not unusual to find an S-shaped (scoliosis) spine; an abnormally inwardly curved (lordosis); or an abnormally outwardly curved (kyphosis), making the back appear rounder.
The trunk
The physical section called the trunk, which runs from the neck to the abdomen, may appear smaller. Furthermore, afflicted people may not reach a normal height and may not grow as tall as their peers. A short, immobile neck is possible in those who are affected.
Reduced lung capacity
The lungs of afflicted newborns and youngsters may not develop and function normally due to spine and rib deformity. The lungs can contain less air than they would ordinarily because affected babies and youngsters cannot extend their chests enough. As a result, those who have this illness may have breathing issues and frequently contract respiratory infections. Severe breathing issues have the potential to cause life-threatening issues. Heart failure risk might also rise with decreased lung capacity.
Inguinal hernia
An inguinal hernia is a disorder that causes sections of the large intestine to protrude through a hole in the abdomen. It also protrudes from the wall opening close to the belly button. Spondylothoracic Dysostosis is associated with an increased chance of having the condition (umbilical hernia).
Spondylothoracic Dysostosis Diagnosis
Our doctors diagnose this condition through the following:
- Identification of distinctive symptoms
- A thorough patient history
- A comprehensive clinical assessment,
- And several specialist tests
X-rays
X-rays (radiographs) of the spine can reveal the distinctive rib and spine abnormalities that define Spondylothoracic Dysplasia.
Molecular genetic testing
In certain people, molecular genetic testing can confirm a Spondylothoracic Dysplasia diagnosis. Only a diagnostic service at a specialist lab with molecular genetic testing can identify changes in the MESP2 gene. Additionally, molecular genetic testing cannot validate a diagnosis in cases when this gene is not mutated.
Fetal ultrasound
Fetal ultrasonography works well to diagnose Spondylothoracic Dysplasia during pregnancy. Ultrasound is a great test that allows doctors to see images of the developing fetus. Some of the problems connected with Spondylothoracic dysplasia can appear during fetal ultrasonography.
Spondylothoracic Dysostosis Treatment
Throughout the course of treatment and even after, a team of specialists will need to work together. Pediatricians, orthopedists, cardiologists, pulmonologists, and other medical professionals will systematically and thoroughly plan a course of treatment for the child. It is advised that afflicted individuals and their families seek genetic and family-wide psychosocial counseling as well.
Respiratory Support
Babies who have trouble breathing may need some form of breathing aid. This may include using machines or devices to help the infant breathe. Some infants may require urgent care requiring continuous hospital monitoring. Surgery is used to repair hernias, and antibiotics are used for infections. With the advent of a Prosthetic Rip, Thoracic VEPTR surgery is beneficial in strengthening the chest and maximizing the growth potential of the lungs.
VEPTR (Vertical Expandable Prosthetic Titanium Rib)
In 2004, the FDA approved the Vertical Expandable Prosthetic Titanium Rib (VEPTR) to treat certain breathing conditions in children with STDs. In children with STD, the chest, spine, and ribs form abnormally, which disrupts lung growth and proper breathing.
Doctors implant the VEPTR to help separate the ribs and straighten the spine. This device expands as needed. It allows the lungs to grow and expand enough to hold adequate air for breathing. As the child grows, doctors regularly adjust the VEPTR to match the patient’s development. They separate the ribs on either side of the chest and place VEPTRs to manage Spondylothoracic Dysplasia.
Expert Pediatric Orthopedic Care
Medical City Kids Ortho earns recognition for providing advanced pediatric orthopedic care. Families travel from around the world to consult our Pediatric Orthopedic specialists. Our high-tech labs diagnose rare conditions, including Spondylothoracic Dysostosis. After evaluating your child’s condition, our care teams collaborate to create a treatment plan tailored to your family’s needs.
Our expert pediatric orthopedic specialists treat children with a wide range of diseases and conditions. Medical City Children’s Orthopedic and Spine Specialists also developed one of the world’s top pediatric imaging systems to monitor and document body changes in growing children. We invite you to contact our office and schedule an appointment.
Why Choose Medical City Children’s Orthopedics and Spine Specialists for Your Child
At Medical City Children’s Orthopedic and Spine Specialists, we have offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX. Finally, our physicians have successfully performed 6,000 surgeries, so you can rest assured your child is in good hands. In the case that your child requires surgery, our compassionate medical team will sit down and discuss with you all the options available so your family can make an informed decision.
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Footnote:
Medline Plus: Spondylothoracic Dysplasia
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