Public condition directory
Browse public condition summaries from China medical resources by stable specialty category.
Angelman syndrome
Angelman syndrome, also known as happy puppet syndrome, is a neurodevelopmental disorder caused by deletion or abnormal expression of the UBE3A gene. Children with this condition primarily exhibit severe developmental delay or intellectual disability, language, motor, or balance developmental disorders, and frequent happy behaviors such as laughing, smiling, or excitement.
View detailsCombined immunodeficiency
Combined immunodeficiency is a group of diseases characterized by a series of symptoms of both humoral and cellular immune deficiencies. The main symptoms include recurrent cough, sputum, fever, oral ulcers, growth and development disorders, short limbs, premature hair loss, anemia, ataxia, intellectual developmental disorders, and lymphadenopathy.
View detailsBeriberi
Beriberi and "athlete's foot" are two completely different diseases. Beriberi, also known as vitamin B1 (thiamine) deficiency, is a disease caused by severe vitamin B1 deficiency in the body due to various reasons, ultimately leading to damage to the central nervous and cardiovascular systems. Vitamin B1: It is an essential nutrient for the human body, but it is rarely stored in the body. Generally, after 1-2 weeks of dietary deficiency, the level of vitamin B1 in human tissues will decrease. Vitamin B1 participates in many important metabolic reactions in the human body, the most important of which is glucose metabolism. Once vitamin B1 is deficient, it will cause carbohydrate metabolism disorders, and the accumulation of pyruvate and lactic acid, intermediate products of carbohydrate metabolism, will damage the patient's central nervous and cardiovascular systems. This disease is divided into 3 types according to clinical manifestations: Dry beriberi: mainly characterized by neurological manifestations. It presents as sensory and motor disorders, decreased muscle strength, foot drop in some cases, and a high-stepping gait when walking (requiring high lifting of the lower limbs to start walking). Wet beriberi: mainly characterized by heart failure, presenting as weakness, fatigue, palpitations, and shortness of breath. Mixed beriberi: can simultaneously present with symptoms of both the nervous and cardiovascular systems.
Hyperimmunoglobulin E Syndrome
Hyperimmunoglobulin E syndrome, also known as Job syndrome, Yao dermatitis syndrome, chronic granulomatous disease variant, Buckley syndrome, etc., is a hereditary immunodeficiency syndrome characterized by elevated IgE. The main features are: Recurrent skin abscesses. Recurrent pneumonia and other infections. High IgE (often ≥ 10 times the upper limit of normal).
View detailsGaucher disease
Gaucher disease is a very rare autosomal recessive genetic disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to the accumulation of lipids in the lysosomes of macrophages in the liver, spleen, bones, and central nervous system, which in turn causes lesions in the affected tissues and organs. This disease is common in children and adolescents, with a higher incidence in those under 7 years old. Based on whether the nervous system is involved, Gaucher disease can be mainly divided into non-neuropathic type (Type I) and neuropathic types (Type II and Type III). The main symptoms include growth and development lagging behind peers, progressive hepatosplenomegaly, ichthyosis-like skin changes, neurological disorders, and fractures.
View detailsAcrodermatitis enteropathica
Acrodermatitis enteropathica is a rare, inherited zinc deficiency disorder. This disease is relatively rare, with a low incidence and similar probability of occurrence in males and females. The average age of onset is 9 months, with a high incidence around the time of weaning. The main symptoms are chronic dermatitis of the mouth and extremities, alopecia, and diarrhea.
View detailsPrader-Willi syndrome
Prader-Willi syndrome, also known as hypotonia-intellectual disability-hypogonadism-obesity syndrome or "Little Willy" syndrome, is a rare genetic disorder caused by a deletion or functional defect of genes on chromosome 15. The symptoms of this disease are complex and can lead to abnormalities in growth, development, and metabolism at different stages of a child's life.
View detailsRotor syndrome
Rotor syndrome is a rare form of jaundice that typically manifests in childhood or adolescence. The pathogenesis involves impaired hepatocellular transport and excretion of bilirubin, leading to the reflux of bilirubin into the bloodstream, an increase in conjugated bilirubin, and subsequent jaundice. This is an autosomal recessive genetic disorder, with almost all affected individuals being under 20 years of age, and no significant difference between sexes. Approximately half of the patients are asymptomatic. General symptoms are usually mild and may include fatigue, upper abdominal or hepatic pain, and pruritus. Jaundice is persistent but can fluctuate.
View detailsPediatric hyperthyroidism
Hyperthyroidism, abbreviated as hyperthyroidism, refers to a group of diseases caused by the thyroid gland itself continuously producing and releasing excessive thyroid hormones. When it occurs in childhood, it is called pediatric hyperthyroidism.
View details