MPS IX

Hyaluronidase deficiency is a condition caused by mutations in HYAL1, and 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 generalised cutaneous swelling.
*Frequent episodes of otitis media.
*Short stature.
*Mildy dysmorphic facial features such as a flattened nasal bridge, bifid uvula and a submucosal cleft palate.
*Joint movement and intellectual ability are unaffected.

See also

* Morquio syndrome
* Hunter syndrome
* Hurler syndrome
* Skin lesion

References

External links

Skin conditions resulting from errors in metabolism

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