Hyaluronidase deficiency

 Hyaluronidase deficiency is a condition caused by mutations in HYAL1, and characterized by multiple soft-tissue masses.^[1]: 544

Hyaluronidase deficiency
Other names	Mucopolysaccharidosis type IX
Specialty	Dermatology
Symptoms	short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain
Usual onset	Childhood
Causes	Deficiency of the enzyme hyaluronidase
Frequency	less that 1 in 1,000,000

Signs and SymptomsEdit

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 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.