What are the main manifestations of mucopolysaccharide storage disease?

In classic patients, take type I as an example: 1. Rough face: large head, boat-shaped head, prominent forehead, thick eyebrows, prominent eyes, swollen eyelids, low nasal bridge and upturned nostrils. Lips are large and thick; tongue is large and easily protrudes out of the mouth. Gums are enlarged, teeth are small and widely spaced. Thick skin, sweaty hair, thick and rough hair, low hairline. 2, corneal clouding: with the progress of the disease, corneal clouding is gradually obvious and serious, which can lead to blindness. 3. Joint stiffness: Involvement of large joints, such as elbow joints, shoulder joints and knee joints, limiting the mobility of these joints; involvement of hand joints, showing the characteristics of “claw-shaped hands”. 4. Dwarfism: The patient has a short neck, a retroverted spine, and growth almost stops around the age of 2 to 3. 5. Enlarged liver and spleen: the abdomen is enlarged and the pressure in the abdominal cavity leads to umbilical hernia and inguinal hernia, which are prone to recurrence even after surgical repair. 6. Mental backwardness: Patients may show mental backwardness around 1 year old, with the best intellectual level only around 2~4 years old, and then slowly fall to the level of severe mental retardation. 7, heart: most patients have heart involvement in the later stages of the disease, manifesting as valvular disease, which can lead to bruising heart failure. Ear, nose and throat characteristics Often have chronic recurrent rhinitis, coarse breathing, sleep snoring, chronic obstructive apnea, coarse speech sounds, and heavy patients often have chronic hearing loss. Type II classic patients have milder symptoms than type I. The type is predominantly male onset, and the patient’s cornea is not cloudy; type III patients have intellectual backwardness as the main clinical manifestation; type IV patients have flaccid wrist joints, and the thorax protrudes forward, similar to chicken chest; type VI patients have normal intelligence, and the corneal cloudiness is obvious; type VII patients can have very different clinical manifestations, with severe manifestations of hydrops fetalis, and lighter patients can only short stature.