Schimke Immunoosseous DysplasiaQ87.1

Schimke RN et al (1974).

Schimke immunoosseous dysplasia is a rare disorder characterized by the combination of spondyloepiphyseal dysplasia (SED) with a distinctive clinical phenotype, numerous lentigines, a slowly progressive immunodeficiency, and immune complex nephritis. It leads to death at about 8 years of age. Like ADA deficiency (102700), cartilage-hair hypoplasia (250250), and Shwachman syndrome (260400), this disorder combines abnormalities of the immune and skeletal systems. Affected individuals suffer from T-cell deficiency.

Less common signs and symptoms of Schimke immunodysplasia include early-onset atherosclerosis, cerebral ischemia, migraine-like headaches, hypothyroidism, and lymphopenia. Further inconstant is a hypoplastic pelvis, microcephaly, and azoospermia.

"Schimke immunoosseous dysplasia" (SIOD) is caused by a homozygous or compound heterozygous mutation in the SMARCAL1 gene (606622) on chromosome 2q25.

Schimke's immunoosseous dysplasia was first described by Schimke et al. (1974) as "chondroitin-6-sulfate mucopolysaccharidosis." Later studies failed to confirm mucopolysacchariduria and excluded mucopolysaccharidosis (Spranger et al. 1991).

1. Baradaran-Heravi A et al (2008) Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet 146A: 2013-2017.
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4. Ehrich JHH et al (1990) Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediat Nephrol 4: 117-121.
5. Hashimoto K et al (1994) Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 49: 266-269.
6. Schimke RN et al (1974) Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects Orig Art Ser X(12): 258-266.
7. Spranger J et al (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediat 119: 64-72.