Hypertrichosis skeletal dysplasia retardation syndrome with hyperuricemia E70.32

Very rare congenital syndrome with progressive hypertrichosis of the face, trunk and limbs with premature graying associated with skeletal anomalies (hollow feet, abnormal position of the thumbs, brachycephaly, increasing expression of a long neck, a narrow-long ribcage, drooping shoulders, coxae valgae with subluxations of the hip joints).

Persistent mild mental retardation and hyperuricemia due to reduced excretion of uric acid. Gout complaints occur from the 2nd decade of life.

Probably an autosomal or X- chromosomal new mutation.

Treatment of hyperuricemia

1. Wiedemann HR et al (1991) Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and uric acid metabólism disorder. At J Genet 46: 403-409
2. Oster O et al (1994) Reduced renal excretion of uric acid in hirsutism skeletal dysplasia mental retardation syndrome. At J Genet 51: 165