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short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain
Usual onset
Childhood
Causes
Deficiency of the enzyme hyaluronidase
Frequency
less than 1 in 1,000,000
Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.
Signs and symptoms
As hyaluronidase deficiency is an extremely rare disorder, a clear clinical picture of the disease has not been formed. However, the following symptoms may occur:
Multiple soft tissue masses which may experience temporary episodes of painful swelling.
Temporary episodes of generalized cutaneous swelling.
Mildy dysmorphic facial features such as a flattened nasal bridge, a bifid (split) uvula, and a submucosal cleft palate.
Joint movement and intellectual ability are unaffected.
Diagnosis
This section is empty. You can help by adding to it. (December 2024)
It is diagnosed through a combination of a thorough clinical evaluation in which characteristic findings are identified, specialized tests that can detect things like excessive levels of mucopolysaccharides and enzym essays to see if there is a deficiency in the enzyme hyaluronidase.
Treatment
This section is empty. You can help by adding to it. (December 2024)
At the moment, there are no effective treatments against hyaluronidase deficiency. The only treatment they can provide is symptomatic and meant to manage and alleviate individual symptoms.
