Woodhouse–Sakati syndrome,[1] is a rare autosomal recessive[2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system.

[3] The syndrome is characterized by progressive hair thinning in childhood that often progresses to alopecia, hypogonadism (which becomes evident at puberty), hypothyroidism, hearing loss, mild intellectual disability, diabetes mellitus, progressive extrapyramidal movements (dystonic spasms, dystonic posturing, dysarthria, dysphagia).

[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.

[citation needed] Like with most other NBIA diseases, a T2-sequence MRI is used to detect iron accumulation in the brain.

A blood test can also be used to detect low insulin-like growth factor 1 levels.