Question: What are the symptoms of Mucopolysaccharidosis type VI ?
Answer: What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD