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Woodhouse-Sakati syndrome

Synonym(s) Diabetes-hypogonadism-deafness-intellectual disability syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
  • Q87.8
  • C0342286
  • C536742
MedDRA -


Disease definition

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far.

Clinical description

The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.


Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.

Genetic counseling

The disease is transmitted in an autosomal recessive manner.

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Detailed information

Clinical practice guidelines
Clinical genetics review
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