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Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum, and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. MPS IVA is caused by changes (mutations) in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Cerebellar vermis hypoplasia|
|Abnormal urine potassium concentration|
|Prolonged partial thromboplastin time|
|Aplasia of the ulna|
|Abnormal circulating citrulline concentration|
|Insulin receptor antibody positivity|
|Coarse facial features|
|Focal cortical dysplasia|
|Aortic valve stenosis|
|Renal juxtaglomerular cell hypertrophy/hyperplasia|
|Coarse facial features|
|Congenital localized absence of skin|
|Severe global developmental delay|
|Aplasia/Hypoplasia of the abdominal wall musculature|
|Progressive flexion contractures|
|Medium chain dicarboxylic aciduria|
|Type 1 and type 2 muscle fiber minicore regions|
|Corpus callosum atrophy|
|Abnormal number of teeth|
|Delayed eruption of permanent teeth|
|Functional abnormality of the bladder|
|Color vision defect|
|Loss of subcutaneous adipose tissue in limbs|
|Wide proximal femoral metaphysis|
|Generalized bone demineralization|
|Intermittent hyperpnea at rest|
|Abnormal heart valve morphology|
|Autosomal recessive inheritance|
|Chondroitin sulfate excretion in urine|
|Constricted iliac wings|
|Disproportionate short-trunk short stature|
|Epiphyseal deformities of tubular bones|
|Flaring of rib cage|
|Hypoplasia of the odontoid process|
|Keratan sulfate excretion in urine|
|Opacification of the corneal stroma|
|Ovoid vertebral bodies|
|Pointed proximal second through fifth metacarpals|
|Recurrent upper respiratory tract infections|
|Restrictive ventilatory defect|
|Ulnar deviation of the wrist|
|Widely spaced teeth|
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