Hereditary Tyrosinemia is a group of inherited metabolic disorders caused by deficiencies of specific enzymes in the tyrosine metabolic pathway. Based on the deficient enzyme, it is clinically classified into three main subtypes: Type I (HT1), Type II (TAT deficiency), and Type III (HPD deficiency).

Retinoblastoma (RB) is the most common intraocular tumor in children, triggered by biallelic mutations in the RB1gene or amplification of the MYCNoncogene. RB can be unilateral (60%-70%) or bilateral (30%-40%). Bilateral tumors are typically hereditary and present at an earlier age. Retinoblastoma accounts for 2% to 4% of childhood malignancies and is a common primary tumor of the eye. The global incidence in newborns is approximately 1 in 16,000.

Neuroblastoma (NB) is the most common extracranial solid tumor in children, accounting for approximately 8%-10% of pediatric malignancies. Due to its extremely heterogeneous clinical manifestations, it is known as the "king of childhood tumors."

Fanconi Anemia (FA) is a rare inherited bone marrow failure syndrome, primarily inherited in an autosomal recessive pattern, with approximately 2% being X-linked recessive. The disease is characterized by congenital developmental abnormalities, progressive bone marrow failure, and significantly increased susceptibility to malignancies. Clinical manifestations include café-au-lait spots (55%), short stature (51%), limb defects (43%), craniofacial abnormalities (26%), ocular abnormalities (23%), and renal anomalies.

Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive genetic disorders caused by defects in key enzymes involved in adrenal corticosteroid synthesis. The core feature is impaired cortisol synthesis, which through negative feedback mechanisms leads to compensatory increased secretion of adrenocorticotropic hormone (ACTH), stimulating adrenal cortical hyperplasia while causing abnormal accumulation of precursor substances such as androgens.