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Best Doctor List Near You for Diastrophic Dysplasia in Concepcion de la vega
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Diastrophic Dysplasia is a rare genetic disorder classified as a form of skeletal dysplasia, characterized by severe short stature, joint deformities, and distinctive facial features. The condition is caused by mutations in the DTHF gene, which plays a critical role in the development of cartilage and bone. Individuals with Diastrophic Dysplasia often present with shortening of the long bones, particularly in the limbs, leading to disproportionate body proportions. Affected individuals may have a hunchback appearance due to spinal deformities, notably kyphosis and scoliosis. Additionally, they may exhibit clubfoot, which is a deformity affecting the foot and ankle, resulting in an inward turning of the foot. The hands also manifest noticeable changes, including the presence of a hitchhiker's thumb, where the thumb can be bent backward at an exaggerated angle. Facial features might show a characteristic appearance, often described as broad with a flat nasal bridge, though variant expressions exist among patients. Diastrophic Dysplasia has an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutation, generally do not exhibit symptoms but may pass the gene to their offspring. The prevalence of Diastrophic Dysplasia is estimated to be about 1 in 100,000 births, making it one of the rarer forms of skeletal dysplasia. While the condition affects individuals differently, the clinical features typically emerge at birth or in early childhood, often leading to a range of orthopedic challenges that require multidisciplinary management. Treatment focuses primarily on managing symptoms and complications, which may include orthopedic interventions, physical therapy, and regular monitoring to address any spinal or joint issues that arise. Regular follow-ups with a geneticist and orthopedic specialist are vital for managing the condition effectively. In many cases, these individuals can lead fulfilling lives, though they may face unique challenges due to their physical limitations associated with the dysplasia. Understanding Diastrophic Dysplasia involves recognizing not only the physical manifestations but also how it impacts the psychosocial aspects of an individual's life. Supportive therapies, early intervention services, and inclusive practices can greatly enhance the quality of life for those affected by this condition. As research advances, there may be potential for targeted gene therapies or new treatment modalities that could further improve outcomes for future generations. Awareness of Diastrophic Dysplasia within the medical community and beyond is essential to foster acceptance and support for individuals living with this complex condition.
- Pediatric Autoimmune Disease Specialist in Concepcion de la vega
- MRI Specialist in Concepcion de la vega
- Parasitology in Concepcion de la vega
- Spine Surgeon in Concepcion de la vega
- Lower Extremity Reconstruction Surgeon in Concepcion de la vega
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- Heart Transplant Surgery in Concepcion de la vega
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- Emergency Field Medicine Specialist in Concepcion de la vega
- Autoimmune Neurological Disease Specialist in Concepcion de la vega
- Skin Cancer Specialist in Concepcion de la vega
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- Cardiovascular Surgeon in Concepcion de la vega
- Robotic Surgeon in Concepcion de la vega
- Sexual Health Specialist in Concepcion de la vega
- Pulmonary Rehabilitation in Concepcion de la vega
- Biliary Surgery in Concepcion de la vega
- Cardiothoracic Anesthesiologist in Concepcion de la vega
- Spine Reconstruction Surgeon in Concepcion de la vega
- Pediatric Emergency Medicine Specialist in Concepcion de la vega
- Spinal Deformity Specialist in Concepcion de la vega
- Prostate Saturation Biopsy in Concepcion de la vega
- Muscle Biopsy in Concepcion de la vega
- Pair (Puncture-Aspiration-Injection-Reaspiration) in Concepcion de la vega
- Anal Condyloma in Concepcion de la vega
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- Arteriovenous Shunt, Surgical in Concepcion de la vega
- Tracheotomy in Concepcion de la vega
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- Plasma-Lyte in Concepcion de la vega
- Bronchoscopic Lung Volume Reduction in Concepcion de la vega
- Throat Culture in Concepcion de la vega
- Dental Implants in Concepcion de la vega
- Nuss Procedure in Concepcion de la vega
- Cholecystectomy And Exploration Of The Bile Duct in Concepcion de la vega
- Extraction in Concepcion de la vega
- Hypnotic Ego-Strengthening Procedure in Concepcion de la vega
- Skin Patch Test in Concepcion de la vega
- Split-Brain Procedure in Concepcion de la vega
- Electrotrichogenesis in Concepcion de la vega
- Acetabulum Fractures in Concepcion de la vega
- Specialized Neurological Services in Concepcion de la vega
- Common Endovascular Neurosurgery Procedures in Concepcion de la vega
- Immunohistochemistry (IHC) Services in Concepcion de la vega
- Sports Medicine in Concepcion de la vega
- Pulmonology Services in Concepcion de la vega
- Extracorporeal Membrane Oxygenation (ECMO) in Concepcion de la vega
- Fertility Preservation in Concepcion de la vega
- Allergy Testing and Treatment Services in Concepcion de la vega
- Fetal Monitoring in Concepcion de la vega
- Bone Marrow and Stem Cell Transplant in Concepcion de la vega
- Genetic Testing in Concepcion de la vega
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- Pulmonary Rehabilitation in Concepcion de la vega
- Substance Abuse Rehabilitation in Concepcion de la vega
- Coagulation Disorders in Concepcion de la vega
- Interventional Neuroradiology in Concepcion de la vega
- Pediatric Trauma and Critical Care Transport in Concepcion de la vega
- Postmenopausal Bone Care in Concepcion de la vega
- Penetrating Keratoplasty in Concepcion de la vega
- Virology in Concepcion de la vega
- Pediatric Nephrology Services in Concepcion de la vega
- Being Housebound in Concepcion de la vega
- Poor Circulation in Concepcion de la vega
- Dalrymple's Sign in Concepcion de la vega
- Feeling Frightened (Anxiety) in Concepcion de la vega
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- Weakness Of One Side Of Face in Concepcion de la vega