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 than 1 in 1,000,000 |
Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses. [1]: 544
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]
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 than 1 in 1,000,000 |
Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses. [1]: 544
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]