Английская Википедия:Hyaluronidase deficiency
Материал из Онлайн справочника
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
External links
Further reading
- Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
- Macon Meereskosmetik (in German)
- Hyaluronidase deficiency
Шаблон:Mucopolysaccharidoses Шаблон:Cutaneous-condition-stub
