Inherited Spine Conditions

Inherited Spine Conditions

While our bones and spine give firm support, they are not free from the pull of our genes. Some rare spine illnesses pass from parent to child, showing how our gene map shapes our bone frame. One case is SED (short for spondylo-epiphyseal dysplasia), a rare set of illnesses where gene flaws harm bone and joint growth. This leads to short height, short arms and legs, and joint pain, which makes life hard for those with SED.

Achondroplasia, the most known type of dwarfism, gives us a clear next case. Here, a small shift in one gene (FGFR3) blocks bone growth, which leads to short arms and legs and a set head shape. This type is strong in how it shows; just one gene copy is enough. Oddly, it can show up when no parent has it, since the gene flaw can start fresh in the sperm or egg.

Our genes shape more than just growth. Scoliosis, a side bend in the spine, can run in the family line, too. While stance and life ways can add to it, some genes seem to raise the odds. Work still goes on to learn which genes cause it, but the hope is for new care made to fit each case.

Though our spines take on the load of daily life in silence, knowing their built-in weak points helps us see how genes guide bone growth. These facts may lead to better tests and care, and show us the wide range and strong will of the human frame, even when genes pose a test.

Group-I

• Congenital Scoliosis appears as a curvature of the spine at birth, and the cause refers to an abnormal vertebral formation during fetal development. This condition can vary in severity, and its impact on spinal alignment depends on the extent of vertebral malformation.
• Congenital Kyphosis involves an excessive outward curvature of the upper spine, leading to a hunchback appearance. This abnormal spinal curvature appears at birth and may result from improper vertebral development, impacting the thoracic region of the spine.
• Congenital Lordosis, on the other hand, manifests as an excessive inward curvature of the lower spine, creating a swayback posture. Similar to congenital kyphosis, this condition is attributed to abnormal vertebral development and is present at birth.
• Spondylolisthesis appears as the slipping of one vertebra over another, often caused by a defect in the pars interarticularis, a portion of the vertebra. The displacement can result in a range of symptoms and may require medical intervention.
• Spondylolysis refers to a specific defect in the pars interarticularis, weakening the vertebra and potentially leading to spondylolisthesis. This condition appears asymptomatic and causes lower back pain, particularly in adolescents involved in sports.
• Sacral Agenesis involves the partial or complete absence of the sacrum bone, a critical component of the spine. This condition can impact the lower spine and pelvic region, affecting both skeletal structure and function.
• Klippel-Feil Syndrome is characterized by a short neck with the fusion of cervical vertebrae, resulting in limited neck mobility. This congenital disorder affects the development of the spine during early fetal life.
• Osteogenesis Imperfecta, commonly known as brittle bone disease, is a genetic disorder that increases the risk of spinal fractures due to weakened bones. This condition affects the entire skeletal system, including the spine.

GROUP-II

• Diastrophic Dwarfism presents with short stature, twisted limbs, and spinal deformities. The condition affects cartilage and bone development, leading to distinctive physical features.
• Achondroplasia appears as a genetic disorder causing short stature with disproportionately short limbs and a normal-sized torso. While primarily affecting long bones, the spine may also show characteristic features.
• Spondyloepiphyseal Dysplasia encompasses a group of disorders affecting bones and cartilage, including those impacting the spine. This condition can lead to skeletal abnormalities, joint problems, and short stature.
• Spina Bifida results from incomplete closure of the spinal canal during fetal development, with varying degrees of spinal cord and nerve involvement. The severity of symptoms varies, and doctors will recommend surgery in many cases.
• Tethered Cord Syndrome involves the abnormal attachment of the spinal cord to the spinal canal, restricting its movement and potentially causing neurological problems. This condition may require surgical intervention to release the tethered cord.
• Myelomeningocele is an open form of spina bifida where the spinal cord and meninges protrude through the back. This condition often requires surgical closure of the neural tube defect.
• Meningocele is a condition where a sac containing meninges protrudes through the back, but the spinal cord remains inside. It is a less severe form of spina bifida compared to myelomeningocele.
• Diastematomyelia appears as a splitting of the spinal cord along its length, resulting in a bony spur or septum within the spinal canal.
• Congenital Spinal Cord Lipomas involve fatty tumors within the spinal canal, potentially affecting the spinal cord and nerves. Doctors may recommend surgery if the lipoma causes symptoms.
• Tarlov Cysts are cysts located at the base of the spine that can cause pain and other symptoms. These cysts may require medical evaluation and treatment, including drainage or surgical intervention.

GROUP-III

• Arnold-Chiari Malformation involves the displacement of brain tissue into the spinal canal, affecting the normal flow of cerebrospinal fluid. This condition may require surgical intervention to alleviate symptoms.
• Congenital Cervical Stenosis appears as a narrowing of the spinal canal in the neck, potentially leading to compression of the spinal cord. It may require surgical intervention to address the stenosis and relieve pressure on the spinal cord.
• Butterfly Vertebra refers to a single vertebra that is split into two halves, resembling the shape of a butterfly. This rare congenital anomaly may or may not cause symptoms, depending on its location and impact on spinal stability.
• Congenital Vertebral Segmentation Anomalies involve the presence of extra or missing vertebrae in the spine, leading to structural abnormalities. These anomalies can vary in severity and may require medical evaluation.
• Hemivertebrae result from the incomplete formation of a vertebra, causing asymmetry in the spine. This congenital condition may lead to spinal curvature and require medical attention.
• Spondylocostal Dysostosis is a congenital malformation affecting both ribs and vertebrae, leading to skeletal abnormalities. This rare disorder may require medical management to address associated complications. Sacral Agenesis with Caudal Regression Syndrome is characterized by the combined absence of the sacrum and malformations in the lower spine. The condition can impact both skeletal structure and function.
• Spondylometaphyseal Dysplasia is a skeletal dysplasia affecting the spine and ends of long bones. This congenital disorder may result in abnormalities in bone development and growth.
• Fibrocartilaginous Embolism Syndrome involves the blockage of blood vessels in the spine with cartilage-like material. This rare condition may cause neurological symptoms and requires medical evaluation.
• Congenital Platyspondyly refers to the flattening of the vertebrae, leading to changes in the normal curvature of the spine. The severity of this congenital anomaly varies among individuals.

GROUP-IV

• Congenital Scoliosis due to Syndromes, such as Larsen syndrome, Jeune syndrome, and Cerebrocostomandibular syndrome, involves spinal curvature as part of broader genetic syndromes. The treatment approach may address both the syndrome and associated spinal issues.
• Myelomeningocele with Hydrocephalus appears as a form of spina bifida accompanied by the accumulation of fluid in the brain (hydrocephalus). This complex condition often requires coordinated medical and surgical management.

At the Southwest Scoliosis and Spine Institute, We Develop Individualized Treatment Plans for Each Patient Based on Their Symptoms.

At the Southwest Scoliosis and Spine Institute, we focus on Scoliosis Diagnosis, Treatment, & Care for our Patients. Our fellowship-trained, board-certified expert orthopedic spine surgeons, Richard Hostin, MD, Devesh Ramnath, MD, Ishaq Syed, MD, Shyam Kishan, MD, and Kathryn Wiesman, MD, specialize in all types of spine conditions, deformities, and scoliosis pain. The Southwest Scoliosis and Spine Institute, with offices in Dallas, Plano, and Frisco, Texas, offers a multidisciplinary treatment for back pain through the most advanced treatments available. Schedule an appointment with one of our board-certified and fellowship-trained doctors by calling 214-556-0555 and stop the pain.

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Citation: Science Direct – Congenital and Hereditary Diseases of the Spinal Cord

The medical content on this page has been carefully reviewed and approved for accuracy by the Southwest Scoliosis and Spine Institute’s qualified healthcare professionals, including our board-certified physicians and Physician Assistants. Our team ensures that all information reflects the latest evidence-based practices and meets rigorous standards of medical accuracy, with oversight from our expert spine doctors to guarantee reliability for our patients.