RARE DISEASES CENTER
Orthopediatrics Pediatric Orthopedics Academy Rare Diseases Center aims to facilitate the diagnosis and treatment process of orthopedic rare diseases with the awareness that every child is special and to increase social awareness of these diseases.
Orthopedic Rare Diseases
Orthopedic rare diseases are categorized and examined based on their impact on the musculoskeletal system. This section is divided into three main categories: neuromuscular disorders, connective tissue disorders, and diseases related to short stature. Under each category, related diseases are mapped out.
Neuromuscular Rare Diseases
· Charcot-Marie-Tooth
· Friedreich's Ataxia
· Spinal Muscular Atrophy (SMA)
· Sacral Agenesis
Rare Diseases of Connective Tissue
· Osteogenesis Imperfecta
· Arthrogryposis
· X-linked Hypophosphatemic Rickets
· Multiple Hereditary Exocytosis
· Larsen Syndrome
Rare Diseases Associated with Short Stature
· Achondroplasia
· Multiple Epiphyseal Dysplasia
· Mucopolysaccharidosis (MPS)
Other Rare Diseases
· Prader-Willi Syndrome
· Rett Syndrome
· McCune Albright Syndrome
· Beckwith-Wiedemann Syndrome
· Trevor's Disease
· Angelman Syndrome
Videos
You can take a look at our video content on Orthopedic Rare Diseases. In these videos, where information is conveyed by Prof. Dr. Muharrem Inan, you can find detailed information about the diseases.
What You Should Know About Rare Diseases
Orthopaedic Rare Diseases Articles covers rare diseases affecting the musculoskeletal system. Including neuromuscular disorders, connective tissue diseases and conditions associated with short stature, this section provides in-depth guides on the diseases.
X-linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets is a disease that is usually inherited as an X-linked dominant trait. It is a metabolic disorder in...
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White – Sutton Syndrome
White – Sutton Syndrome is a rare genetic disorder that often leads to orthopedic problems. It usually affects bone development and...
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SMA (Spinal Muscular Atrophy)
Spinal Muscular Atrophy (SMA) is a genetic disorder that causes muscle weakness and atrophy as a result of the loss of...
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Sacral Agenesis
Sacral agenesis refers to the complete or partial absence of the lower part of the spine called the sacrum. This condition...
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Rett Syndrome
Rett Syndrome is a genetic neurodevelopmental disorder that occurs mainly in girls. It usually starts to show symptoms between 6 and...
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Prader-Willi Syndrome
Prader-Willi Syndrome is a genetic disorder and is characterized by symptoms such as short stature, low muscle tone, eating disorders and...
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Multiple Hereditary Exocytosis
Multiple hereditary exocytosis is a genetic disorder associated with abnormal function of the adrenal glands, which affects the development of bones....
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Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia (MED) is a genetic disorder of bone development. The condition is characterized by abnormal development of growth plates...
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Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) is a rare lysosomal storage disease characterized by a deficiency or disorder of an enzyme that causes glycosaminoglycans (GAGs)...
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McCune-Albright Syndrome
McCune-Albright Syndrome is a rare genetic disorder. It is characterized by fibrosis of the bones (accumulation of fibrotic tissue) and blemishes...
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Larsen Syndrome
Larsen syndrome is a rare congenital anomaly that causes abnormal development of bones and joints. This is usually evident from birth....
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Hemimelic Epiphyseal Dysplasia (Trevor’s Disease)
Hemimelic epiphyseal dysplasia is a rare condition, usually congenital, that is a problem in the development of limb bones. This condition...
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Friedreich’s Ataxia
Friedreich’s ataxia is a progressive neurological disorder that usually occurs in childhood or adolescence. The condition has a genetic origin and...
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Cri du Chat Syndrome
Cri du Chat syndrome is a genetic disorder and is caused by a deletion on the short arm of chromosome 5....
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Charcot-Marie-Tooth (CMT)
Charcot-Marie-Tooth disease (CMT) is a genetic condition that occurs in the peripheral nervous system, particularly in motor and sensory neurons, and...
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Brittle Bone Disease (Osteogenesis Imperfecta)
Brittle bone disease, medically known as Osteogenesis Imperfecta, is a rare condition caused by a genetic disorder that directly affects the...
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Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a genetic disorder characterized by excessive growth, congenital abnormalities and an increased risk of cancer. This syndrome...
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Arthrogryposis
Arthrogryposis is a rare disease that usually develops during pregnancy and is characterized by stiffness of the muscles and joints. Affecting...
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Angelman Syndrome and Orthopedics
Angelman syndrome is a neurodevelopmental disorder that usually affects the central nervous system. The syndrome is usually recognized by some characteristic...
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Achondroplasia
Achondroplasia is a genetic condition known as short stature in individuals, affecting one in every 15,000 to 40,000 live births worldwide....
Devamını OkuRare Diseases Stock Images
You can view our stock images needed for rare diseases on our account on Unsplash.
