SPONDYLOEPIPHYSEAL DYSPLASIA

Spondyloepiphyseal Dysplasia

One type of skeletal dysplasia is Spondyloepiphyseal Dysplasia, which refers to a variety of conditions marked through faulty bone or cartilage formation or development. It is also known as also known as Osteochondrodysplasic, The long bones in the arms, legs, spine, and other body parts are all affected by different skeletal abnormalities that are a feature of SEDC (vertebrae). The epiphyses, the rounded ends or “heads” of the long bones and vertebrae have underdeveloped or malformed bone and cartilage. Spondyloepiphyseal dysplasia comes in two primary varieties: SEDC and tarda spondyloepiphyseal dysplasia (SEDT). Spondyloepiphyseal dysplasia congenita is a rare genetic condition that is frequently inherited from just one parent, while it can also arise from a novel mutation.

Short stature and orthopedic issues in the joints are only two of the signs of Spondyloepiphyseal Dysplasia congenita. Spondyloepiphyseal Dysplasia Congenita is diagnosed using physical, neurological, and diagnostic testing. Depending on the underlying diseases and symptoms, there are several medicinal and/or surgical therapies for Spondyloepiphyseal Dysplasia congenita.

What is Congenital Spondyloepiphyseal Dysplasia?

An uncommon hereditary condition known as Spondyloepiphyseal Dysplasia Congenita causes growth of the spine and epiphyses (enlargement of the area at the end of the long bones). It is categorized as a type 2 collagen deficiency and damages the collagen-based connective tissue framework that supports several bodily components. An autosomal dominant gene, which means one parent transmits the gene to the kid, can cause Spondyloepiphyseal Dysplasia Congenita. However, a new mutation or gene change is the primary cause of the disease in many people.

The two kinds of inheritable bone dysplasia known as Spondyloepiphyseal Dysplasia (SED) are congenita and tarda, respectively. There have already been 175 instances published in the literature, according to statistics from the National Institutes of Health. Prenatal growth deficiencies are common, and often persist throughout life. Arm length compared to torso length makes someone of short stature appear disproportionally long. As type II collagen production is the main clinical abnormality, other symptoms include a flat face, cleft palate, barrel-shaped chest, muscular hypotonia, clubfoot, myopia, and sensorineural hearing. Despite the fact that it is autosomal dominant, a novel mutation is the source of a large number of cases.

Age Related Complications

The risk of cervical myelopathy rises as people age because their vertebrae become kyphotic (bent backward) and flattened. Along with pelvic dysplasia, femoral head coxa vara, and limb shortening can also result in these conditions. Stiffness and reduced joint mobility are observed in the elbow, knee, and hip joints. The slanted position of the thigh bones in the hip joint can cause coxa vara, while the genu varum and valgum can result from knee joint involvement. The secondary consequences are atlantoaxial instability, recurrent otitis media, myopia, and retinal detachment, lumbar lordosis, sciatica, and delayed motor development. Because their ribcages are undersized and undeveloped, some newborns suffer breathing issues. A typical example is a 3-hour-old baby who had trouble breathing and made a feeble scream when she was born. Clinical evaluation revealed a short trunk and dysmorphic characteristics, which prompted further skeletal assessment and genetic testing, which revealed Spondyloepiphyseal Dysplasia.

Spondyloepiphyseal Dysplasia Symptoms

An unusual discovery is a lack of growth before delivery. Childhood growth deficiencies result in children not reaching the same height as their friends.  A child has short stature if their height is below that of someone their age and gender. Disproportionate refers to how far out from the body the arms can reach. A neck that is very short may also occur in those who are affected. The head, hands, and feet are all normal sizes. Final adult height typically falls between 2.8 and 4.2 feet. Affected individuals are prone to neck bone dislocations, back pain, and compression of the sciatic nerve (sciatica). Along the sciatic nerve, sciatica can produce pain, tingling, and numbness. Wide, barrel-shaped chests are typical.

Ribs and the sternum, the breastbone, may also protrude. Clubfeet are more prevalent at birth in these children. Some people with the condition could have trouble straightening their limbs and legs. Along with spinal abnormalities, afflicted children may also have reduced muscle tone and muscle weakness, which may cause delays in their ability to walk. In some cases, affected children may exhibit an abnormal “toddler” gait. Children may experience gradual sensorineural hearing loss, in which the auditory nerve or the inner ear is damaged and improper sound vibration are transmitted to the brain occurs. Even while IQ is often unaffected, some developmental milestones may take longer for these kids to reach.

Spondyloepiphyseal Dysplasia Treatment

The precise symptoms that are noticeable in each individual are the focus of treatment. A multidisciplinary team of experts will need to work together to provide care. Pediatricians, experts in the diagnosis and treatment of musculoskeletal conditions (orthopedic surgeons), experts in the diagnosis and treatment of eye conditions (ophthalmologists), rheumatologists, physical therapists, and other medical professionals will systematically and thoroughly plan a child’s course of treatment. For afflicted patients and their families, genetic counseling and psychosocial assistance will help. 

Specific treatments address symptoms and provide assistance. In order to guarantee timely discovery and proper prevention or corrective treatment of breathing issues, doctors will carefully monitor afflicted newborns. To identify and evaluate nearsightedness and to avoid retinal detachment, routine eye tests are necessary. An eye surgeon can surgically fix a detached retina. Our doctors will recommend physical to help joints move more freely and prevent muscle atrophy.

Surgery

In some cases, our doctors may recommend surgery to achieve better positioning and increase the range of motion in certain joints. Our doctors may also recommend surgery to treat a hip deformity, and in some cases, a total hip replacement. A child’s abnormal curvature of the spine will first require braces.  Recommendations for surgery may be made to correct other spinal or knee abnormalities or to close a cleft palate. Doctors can also address a clubfoot and treat it with a splint or surgery. Spinal fusion surgery or the implantation of a rod to stabilize the spine may proceed with children with cervical instability. This “growing rod” corrects a child’s spinal abnormality while enabling the spine to continue developing in a regulated manner.

Anesthesia

The administration of anesthesia can be complicated by certain physical characteristics associated with SEDC, such as a short neck, cervical spine instability, limited lung capacity, and narrow airways. Before undertaking operations that need anesthesia, doctors will fully assess the patient. Even though it can lead to physical problems, SEDC often does not shorten life expectancy. The majority of people raise kids, conduct productive, active lives, and their intelligence is often unaffected. However, patients of this condition should avoid activities such as contact sports that can cause head and neck injuries.

Spondyloepiphyseal Dysplasia Diagnosis

The diagnosis of congenital spinal epiphyseal dysplasia results on the identification of characteristic symptoms, a detailed medical history, a thorough clinical examination, and a range of specialized tests. Upon birth, doctors may already suspect a birth defect based on tests before birth.

X-rays

To offer a full, detailed evaluation of the entire bone system (total skeletal survey), basic x-rays (radiography) can take place. This will enable the detection of skeletal alterations that are indicative of SEDC.

CT Scan

Before having surgery to address skeletal abnormalities, doctors will evaluate the health of the skeleton using more sophisticated imaging techniques like computed tomography (CT) and magnetic resonance imaging (MRI). An MRI creates cross-sectional pictures of certain organs and body tissues using a magnetic field and radio waves. When doing a CT scan, x-rays and a computer will produce a film that shows cross-sectional pictures of certain tissue features.

Genetic testing

Molecular genetic testing can authenticate the diagnosis. Molecular genetic testing can detect mutations in genes that cause SEDC; however, this testing is only accessible from specialized laboratories.

Why Choose Medical City Kids Ortho

For providing excellence in health care for children and cutting-edge pediatric orthopedic care, the Medical City Children’s Orthopedics and Spine Specialists has received recognition. As an example, families come from all over the world to consult with our skeletal dysplasia specialists. Even the most uncommon skeletal dysplasia’s, such as spondyloepiphyseal dysplasia, can easily get diagnosed through our genetics laboratory. After determining your child’s health, our care teams collaborate to develop a specialized treatment strategy — tailored to your family’s requirements.

Our renown pediatric orthopedic specialists will provide the very best and up to date treatment for your child. Skeletal dysplasia may vary and evolve over time; thus, Medical City Kids Ortho has developed one of the best pediatric imaging systems in the world to monitor and record changes in children’s bodies.