Respiratory
By late teens and adulthood, the ribs are nearly horizontal and the sagittal diameter of the chest is greater than average. As a result, respiratory expansion becomes considerably impaired. Moreover, frequent upper respiratory tract infections, including otitis media, may occur due to the malformation of the rib cage. The trachea is narrow and may collapse during head flexion. Lung function tests and sleep studies are frequently used to diagnose breathing problems in skeletal dysplasias. Regular review by a pulmonologist is recommended. Prolonged breathing difficulties may warrant a tracheostomy and long-term ventilatory support.
Cardiac
Cardiac complications may occur, including cardiomyopathy, valvular disease, or a late onset of aortic regurgitation. Cardiac anomalies are predominately left sided. Severe cases have resulted in death before the age of 20.
Ear
Hearing loss, inguinal hernia, and hepatomegaly are all problems associated with the ear. Hearing aids and tubes are often times required.
Eye
Corneal opacity is typical once patients reach age 5; glaucoma of the eyes and pigmentary retinal degeneration may occur in older patients. Ophthalmologic examination is needed at frequent intervals.
Skin
Cutaneous abnormalities may also be present, including loose, thickened, tough, and inelastic skin, particularly of the extremities. Generalized telangiectasia of the face and limbs has also been reported.
Teeth
Appropriate dental care is required due to the hypoplasia of tooth enamel. Teeth often brown and discolor easily. The permanent posterior teeth have pointed cusps; there is often times pitting of the bucal surfaces. The teeth are also widely spaced.
Mental Capacity
Intelligence and mentality is typically not impaired in Morquio type A. However, progressive mental deficiency does occur in Morquio Type B.