Larsen Syndrome
Larsen syndrome is a rare congenital anomaly that causes abnormal development of bones and joints. This is usually evident from birth. Larsen syndrome is a rare disorder. The actual incidence is approximately 1/100,000. Symptoms of Larsen Syndrome Symptoms of Larsen…
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 is characterized by incomplete or abnormal development of an epiphyseal plate in the limbs. The epiphyseal plate is one…
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 often leads to problems with movement control and coordination. It is named after Nikolaus Friedreich, the German physician who…
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. This affects the development of the individual and can result in various physical and mental characteristics. From an orthopedic…
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 is characterized by progressive muscle loss and reduced sensory perception. This neuropathy affects one in every 2,500 to 5,000…
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 lives of individuals. Research shows that this disease affects one in every 15,000 to 20,000 live births. Individuals with…
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 can involve many different signs and symptoms and can affect various organ systems. Beckwith-Wiedemann Syndrome is a rare disease…
Arthrogryposis
Arthrogryposis is a rare disease that usually develops during pregnancy and is characterized by stiffness of the muscles and joints. Affecting one in every 30,000 live births, the condition can cause movement restrictions and various deformities in many different joint…
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 symptoms and can often involve orthopedic problems. Here is a comprehensive overview of the relationship between Angelman syndrome and…
Achondroplasia
Achondroplasia is a genetic condition known as short stature in individuals, affecting one in every 15,000 to 40,000 live births worldwide. The condition can affect anyone, regardless of gender or ethnicity, and is known to be more common in older…