What should be done if a child is suspected of having congenital adrenal cortical fibrosis at 7 days of age?

Mild Trisomy 21 patients may experience symptoms such as intellectual disability, delayed physical development, and distinctive facial features, potentially accompanied by multiple malformations.

What are chromosomal abnormalities? How can they be checked and prevented?

Learn about the types of genetic metabolic diseases and their importance in prenatal screening.

Phenylketonuria is a common amino acid metabolism disorder caused by an enzyme defect in the phenylalanine metabolic pathway, leading to the inability of phenylalanine to be converted into tyrosine, resulting in the accumulation and metabolism of phenylalanine and its keto acids in urine.

Neonatal disease screening for HBA abnormalities typically refers to thalassemia, which may be accompanied by clinical manifestations or merely a temporary elevation. Early treatment and consideration of genetic factors are recommended.

What is the risk of genetic eye-brain-kidney syndrome in a second child?

Galactosemia is a rare autosomal recessive genetic disorder, primarily manifested in infancy, where patients are intolerant to glucose and galactose, leading to symptoms such as automatic defecation and vomiting.

This article discusses the possibility of congenital deafness being inherited and the factors to consider during childbirth.

If a father has epilepsy, the risk of inheritance for a daughter is about 7-10%. If a child shows signs of inattention, it may be a symptom of ADHD. It is recommended to seek professional psychiatric advice.