What is Cystic Fibrosis? Cystic Fibrosis (CF) is a rare inherited genetic disorder primarily caused by defects in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene located on the long arm of chromosome 7. This gene defect leads to dysfunction in exocrine glands, affecting organs like the airways, pancreas, gastrointestinal tract, and sweat glands.

What is Albinism? Albinism is a rare genetic disorder primarily caused by a deficiency or reduced function of the enzyme tyrosinase, leading to impaired melanin synthesis. This manifests as a lack of pigment in the skin, hair, and eyes. Due to the absence of melanin's protective role, patients are highly susceptible to ultraviolet damage and often experience severe visual impairments. The global incidence of albinism is approximately 1 in 17,000 to 1 in 20,000, with an estimated 70,000 patients in China.

What is Achondroplasia (ACH)? Achondroplasia (ACH) is a common skeletal dysplasia characterized by disproportionate short stature, macrocephaly with frontal bossing, midface hypoplasia, and bowing of the tibiae. The incidence of ACH is approximately 1 in 15,000 to 25,000 live births.

What is Hepatolenticular Degeneration? Hepatolenticular Degeneration, also known as Wilson Disease (WD), is a rare autosomal recessive genetic disorder caused by mutations in the ATP7B gene, leading to abnormal copper accumulation in organs such as the liver, brain, and corneas. Clinically, most WD patients are young individuals, presenting with characteristic features including extrapyramidal symptoms, liver cirrhosis, Kayser-Fleischer rings in the cornea, low serum ceruloplasmin levels (<50 mg/L), and high urinary copper excretion (>100 μg/24h). The prevalence of WD is estimated to be between 1 in 30,000 and 1 in 50,000 individuals. In China, the prevalence is higher than in Western countries, with the age of onset ranging from 1 to 72 years.

What is Fabry Disease? Fabry Disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, leading to a spectrum of symptoms. The estimated incidence of Fabry Disease is approximately 1 in 100,000. Fabry Disease is classified into two forms: Classic and Non-Classical (Later-Onset). The Classic form typically manifests symptoms in childhood or adolescence, affecting males earlier and more severely. Symptoms include neuropathic pain, acroparesthesia, episodic "Fabry crises" of acute pain, and later progression to severe cardiac, renal, and cerebrovascular complications. The Non-Classical form presents later in life (40-60 years) and commonly features cardiac disease (cardiomegaly, left ventricular hypertrophy, cardiomyopathy, hypertrophic cardiomyopathy, myocardial infarction) and renal disease (end-stage renal disease).