Medical condition
| Hyaluronidase deficiency |
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| Other names | Mucopolysaccharidosis type IX |
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 |
| Specialty | Dermatology |
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| Symptoms | short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain |
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| Usual onset | Childhood |
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| Causes | Deficiency of the enzyme hyaluronidase |
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| Frequency | less than 1 in 1,000,000 |
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Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.[1]: 544
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:[2]
- 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.[3]
