Hyaluronidase deficiency

Hyaluronidase deficiency 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.
 * Frequent episodes of otitis media.
 * Short stature.
 * 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.