[MIM 601 492]

(Natowicz syndrome)

Extremely rare. Autosomal recessive transmission of a mutation of the HYAL1 gene (3p21.31) coding for various hyaluronidases. Patients are homozygous or composite heterozygotes. Plasma hyaluronan concentrations are elevated as a result of hyaluronoglucosaminidase-1 deficiency.

The phenotype is relatively mild:

-        periarticular soft-tissue masses: proliferative synovitis

-        knee and hip pain: acetabular erosions

-        small size

-        no neurological or visceral involvement

-        slight facial dysmorphism: flattened nasal crest, bifid uvula, cleft palate

-        normal intelligence

Anesthetic implications:

short stature, mild facial dysmorphism

References : 

-        Natowicz MR, Short MP, Wang Y et al (1996)
Clinical and biochemical manifestations of hyaluronidase deficiency.
N Engl J Med 1996;  335 :1029-33

Updated: February 2024