Spondyloepiphyseal Dysplasia Congénita (DEEC) it is a rare genetic diseaseética resulting in short stature and abnormalías esqueléethics that mainly affect the spine and the long bones of the arms and legs.
It is a form of dwarfism, the niñChildren with this disorder often have vision problems.ón and auditionón. the affectionón isá present at birth.
People with DEEC are smallñas; adult height ranges from 34 until 57 inches tall. His feet, hands and head are ofñThe normal, but her legs, arms and spine are shortened.
The niñThose with DEEC can have a series of musculoskeletal problemséticos, 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.
The niñChildren with this disorder may have craniofacial deformities including a cleft palate., a flat face and ocular hypertelorism (greater distance between the eyes).
Spondyloepiphyseal Dysplasia Congénita is rare, since it occurs in less than 1 decade 100 000 births. It occurs equally in men and women.
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Cause of Spondyloepiphyseal Dysplasia Congénita
DEEC is caused by a mutationóchromosome no. 12 in COL2A1 (colátype II alpha gene 1 chain). La mutationón affects the colágenes and connective tissues in bone, the eyes and other parts of the body.
The biggestía of DEEC cases are the result of new mutations of this gene and occur in families with no history of the disease. Nevertheless, whether this disorder can be inherited.
Conditionón usually follows a patternón autosódominant mice, that is to say, if one of the parents has the disease, each of your children has a 50 percent of inheriting it.
Some auto inheritance casesórecessive mica tooéhave not been reported in norñthe ones with DEEC.
SíSymptoms of Spondyloepiphyseal Dysplasia Congénita
The signs of DEEC can vary from child to child.ñor to another, but they can include:
- Deformities óseas, including short stature, short body trunk, long limbs in relationón with its frame, hip deformities, like stick thigh, and an unstable neck
- Back and spine disorders, as the scoliosis, lordosis, O cifosis.
- musculoskeletal painético, 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 decreasedón the ability to walk.
- Craniofacial deformities, such as cleft palate, flat face and ocular hypertelorism.
- hearing problemsóno and of sight, including decreaseón de la visión, déit is about being heardóno and deafness.
- Digestive and stomach problemsódry, like inguinal hernia and a protruding belly.
- Respiratory problems related to the abnormal development of tórax, like breathing problemsón and sleep apneañO.
DiagnóStico of Spondyloepiphyseal Dysplasia Congénita (DEEC)
The evaluationón of diagnosisóStico usually begins with a story mécomplete dica and an exam fíhis son's psycho.
At the hospital, the experts clínicos useán a variety of tests to diagnose possible complications of DEEC, including:
- X-rays, that im produceábone genes.
- Imágenes by magnetic resonanceética (IMR), which uses a combinationóNo big magnets, radio frequencies and a computer to produce imagesádetailed genes of the óorgans and structures within the body.
- gene testsétics, in which a sample of your child's saliva or blood is used to identify your child's DNA.
- Arthrographíto hip, which uses x-rays and a dye injected into the jointón to show soft tissue (ligaments, tendons, cartílagos y múdogs) of the jointón.
- Imágenes EOS, a technologyíto from rec imageén FDA approved that creates models in 3 dimensions from two imágenes planas. Unlike a CTíto computerized, im takenáEOS genes while the childñwhere isá in a positionón upright or standing, which allows to improve the diagnosisóstico due to the positionóNo. of weight support.
- vision testsón and auditionón, what evalúeven the levels of the eyes and the functionón of the oído.
- function testsópulmonary n, that test whaté tan welláthe lungs are not working.
- All of these tests allow clíonly gather a complete picture of the health méyour child's health and help decide on a plan of careón individualized.
Treatment for Spondyloepiphyseal Dysplasia Congénita (DEEC)
Treatment for DEEC varíbecause the conditionón Affects various body systems, and the case of each childñor is it different. some neitherñaxis withórequire itán careful monitoring.
others needáno treatments no quirúrgicos or quirústrategies to address specific aspectsíI am sorry for your conditionón.
It is generally the práethics of attentionóno of collaborationón, family centered. A team of expertsíunique – including orthopedic surgeonsédicos and métips, nurses askedáknits, therapists níphysical and occupational, bitchólogos and other specialists – be associatedá with you in the care of your child.
many neitherñwith DEEC tooén are diagnosed with a variety of orthopedic conditionsétips, including: scoliosis, thigh stick, anomalousífoot ace and joint problems. In many cases, these conditions areóthey become evident or manifest through the development of the niñO.
Depending on the needs of your child, may need spinal specialists, hip and leg or foot diseases, to treat orthopedic issuesésay and músculo-esquelétics.
The niñwith other effects of the DEEC beán examined and treated by genetic specialistsética, gastroenterologistía, cirugía general, neurologistía, eye specialistía (eyes), otolaryngologistía (Oído, nose and throat) and the surgeryía plástica.
For the purposes of the DEEC, treatment may include:
- Supports and/or surgeryífor spinal problems
- Stands and / o cirugía for hip disorders
- Stands and / o cirugía for neck instability
- Stands and / o cirugía for knee instability and abnormalíace of the foot
- Cirugístaged reconstructive surgery for craniofacial disorders
- Glasses for vision problemsón.
- Audíheadphones for hearing problemsón; tubes to reduce infections of the oído
- Medicines or analgesicémedicines for joint pain
- Therapy física to help the childñor stay ágil
- I attendedótracking number for the DEEC.
Your child with Spondyloepiphyseal Dysplasia Congénita (DEEC) must be supervised by a méorthopedic doctor throughout his development, and in adulthood.
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