genetic-diseases

What is Crouzon Syndrome? What are the causes and what are the symptoms? How is it diagnosed? Is there a cure?

What is Prader-Willi Syndrome? Why does it occur and what are its symptoms? What is the diagnosis? Can it be cured?

What is tuberous sclerosis? What is the genetic cause? Why do symptoms arise in different organs? Is there a cure?

What is Apert Syndrome? What are the causes? Symptoms, Signs and Possible Complications. Tests for Diagnosis. Treatment and Remedies. Prognosis

What is Pfeiffer's Syndrome? What are the causes? Symptoms, Signs and Possible Complications. Tests for Diagnosis. Treatment and Remedies. Prognosis

What is Proteus Syndrome? What are the causes? Symptoms, Signs and Complications. Tests for Diagnosis. Treatment and Remedies. Prognosis and Prevention

What is Sotos Syndrome? What are the causes? Main symptoms and signs. Less common symptoms. Tests for Diagnosis. Cures and Remedies

What is Treacher Collins Syndrome? What are the causes? Symptoms, Signs and Possible Complications. Tests for Diagnosis. Care and Prognosis

What is Malignant Hyperthermia? How does it manifest itself? Causes, Symptoms and Incidence of Malignant Hyperthermia. Tests for Diagnosis, Possible Cures and Treatments

What is metachromatic leukodystrophy? Is there a cure? Features, Causes, Symptoms, Diagnosis. Possible Cures and Gene Therapy of Metachromatic Leukodystrophy

What is Klinefelter's syndrome? What are the causes and symptoms? Is there a cure and, if so, is it possible to lead a normal life?

What is Bartter's Syndrome? Is it a serious illness? What Causes It? Causes, Variants and Diagnosis of Bartter's Syndrome. Symptoms, Treatment and Prognosis

What is Berdon's Syndrome? Is it serious? What Causes It? Causes, Symptoms and Diagnosis of Berdon Syndrome. Possible Cures, Treatments and Prognosis

What is Lynch Syndrome? What are the causes? Symptoms, Signs and Complications. Tests for Diagnosis. Therapy, Prognosis and Prevention

Genetic disease, Marfan syndrome is a severe connective tissue disorder. Signs and symptoms in the eyes, muscles, heart and lungs. Hypothesis on the causes and possible treatments

Pompe disease (type II glycogenosis): What is it? What are the causes? Symptoms and possible complications. Diagnosis and Treatment

What is Duchenne Muscular Dystrophy? Causes: what are they and how is it inherited? Symptoms and Complications. Tests for Diagnosis. Therapy: is there a cure?

What is Epigenetics? What does it do and why is it so important for our health? Is there a link with tumors?

What is Noonan Syndrome? What are the causes and what are the symptoms? How is the diagnosis carried out? Can it be cured?

What is Trisomy 13? What are the causes? What are the symptoms and signs? Tests for Diagnosis. Is there a cure? Prognosis