Schimke immuno-osseous dysplasia syndrome

Also known as: Schimke syndrome; SIOD

Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid-resistant nephropathy.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: SMARCAL1

Etiology & mechanism

SMARCAL1 chromatin remodeling defect.

Gene(s) involved (1)

SMARCAL1

Symptoms & signs (9)

cerebral ischemiafocal segmental glomerulosclerosishyperpigmented maculeshypothyroidismlordosisnephrotic syndromerecurrent infectionsshort staturet-cell deficiency

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.