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Woodhouse-Sakati syndrome
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.
ORPHA:3464
Summary
Epidemiology
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.
Etiology
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.
Detailed information
Article for general public
Professionals
- Clinical practice guidelines
- Deutsch (2012)
- Clinical genetics review
- English (2016)
Additional information