Английская Википедия:Hyaluronidase deficiency

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Шаблон:Infobox medical condition (new) Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.[1]Шаблон:Rp

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]

See also

References

Шаблон:Reflist

External links

Шаблон:Medical resources

Further reading

Шаблон:Mucopolysaccharidoses Шаблон:Cutaneous-condition-stub