Congenital Spondyloepiphyseal Dysplasia (DEEC) is a rare genetic disease that results in short stature and skeletal abnormalities that mainly affect the spine and the long bones of the arms and legs.
It is a form of dwarfism, children with this disorder often have vision and hearing problems. The condition is present at birth.
People with DEEC are small; adult height ranges from 34 until 57 inches tall. His feet, hands and head are normal size, but her legs, arms and spine are shortened.
Children with DEEC can have a number of musculoskeletal problems, including an unstable neck, ligaments loose, lack of muscle tone, back and spinal disorders, hip deformities, foot problems and degenerative joint disease in the hips, knees or shoulders.
Children with this disorder may have craniofacial deformities including a cleft palate., a flat face and ocular hypertelorism (greater distance between the eyes).
Congenital Spondyloepiphyseal Dysplasia is rare, since it occurs in less than 1 decade 100 000 births. It occurs equally in men and women.
Index
Cause of Congenital Spondyloepiphyseal Dysplasia
DEEC is caused by a chromosome mutation 12 in COL2A1 (type II alpha collagen 1 chain). The mutation affects collagen and connective tissues in bones, the eyes and other parts of the body.
Most cases of DEEC are the result of new mutations in this gene and occur in families with no history of the disease.. Nevertheless, whether this disorder can be inherited.
The condition generally follows an autosomal dominant pattern, that is to say, if one of the parents has the disease, each of your children has a 50 percent of inheriting it.
Some cases of autosomal recessive inheritance have also been reported in children with DEEC..
Symptoms of Congenital Spondyloepiphyseal Dysplasia
Signs of DEEC can vary from child to child, but they can include:
- Bone deformities, including short stature, short body trunk, long limbs in relation to its frame, hip deformities, like stick thigh, and an unstable neck
- Back and spine disorders, as the scoliosis, lordosis, O cifosis.
- Musculoskeletal pain, including osteoarthritis, hip and pain in the joints.
- Muscle and joint problems, such as lack of muscle tone and joint pain.
- Foot deformities, including flat feet and feet in.
- Mobility problems, such as a duck march, joint stiffness, loose ligaments and decreased ability to walk.
- Craniofacial deformities, such as cleft palate, flat face and ocular hypertelorism.
- Hearing and vision problems, including decreased vision, hearing deficit and deafness.
- Digestive and stomach problems, like inguinal hernia and a protruding belly.
- Breathing problems related to abnormal chest development, such as breathing problems and sleep apnea.
Diagnosis of Congenital Spondyloepiphyseal Dysplasia (DEEC)
The diagnostic evaluation usually begins with a complete medical history and physical exam of your child..
At the hospital, clinical experts will use a variety of tests to diagnose potential complications of DEEC, including:
- X-rays, that produce images of the bones.
- Magnetic resonance imaging (IMR), which uses a combination of large magnets, radio frequencies and a computer to produce detailed images of organs and structures within the body.
- Genetic testing, in which a sample of your child's saliva or blood is used to identify your child's DNA.
- Hip arthrography, which uses X-rays and a dye injected into the joint to show the soft tissues (ligaments, tendons, cartilage and muscles) joint.
- EOS images, a newly FDA approved imaging technology that creates models in 3 dimensions from two flat images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, allowing improved diagnosis due to weight bearing position.
- Vision and hearing tests, that assess eye levels and ear function.
- Lung function tests, that test how well the lungs are working.
- All of these tests allow clinicians to gather a complete picture of your child's medical health and help decide on an individualized care plan..
Treatment for Congenital Spondyloepiphyseal Dysplasia (DEEC)
Treatment for DEEC varies because the condition affects several systems in the body., and the case of each child is different. Some children will only require careful monitoring.
Others will need non-surgical or surgical treatments to address specific aspects of their condition..
This is usually about collaborative care practice, family centered. Un equipo de expertos clínicos – incluyendo cirujanos ortopédicos y médicos, pediatric nurses, physical and occupational therapists, psicólogos y otros especialistas – se asociará con usted en el cuidado de su hijo.
Many children with DEEC are also diagnosed with a variety of orthopedic conditions., including: scoliosis, thigh stick, foot abnormalities and joint problems. In many cases, these conditions only become evident or manifest through the child's development.
Depending on the needs of your child, may need spinal specialists, hip and leg or foot diseases, to treat orthopedic and musculoskeletal issues.
Children with other effects of DEEC will be examined and treated by geneticists, gastroenterology, General Surgery, neurology, ophthalmology (eyes), Otorhinolaryngology (hearing, nose and throat) and plastic surgery.
For the purposes of the DEEC, treatment may include:
- Supports and / or surgery for spinal problems
- Stands and / or surgery for hip disorders
- Stands and / or surgery for neck instability
- Stands and / o surgery for knee instability and foot abnormalities
- Staged Reconstructive Surgery for Craniofacial Disorders
- Glasses for vision problems.
- Hearing aids for hearing problems; tubes to reduce ear infections
- Medications or pain relievers for joint pain
- Physical therapy to help the child stay agile
- Follow-up care for DEEC.
Your child with Congenital Spondyloepiphyseal Dysplasia (DEEC) must be supervised by an orthopedic doctor throughout its development, and in adulthood.