Woodhouse–Sakati syndrome
Other Names[edit | edit source]
Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities; Woodhouse-Sakati syndrome; Diabetes-hypogonadism-deafness-intellectual disability syndrome
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Onset[edit | edit source]
The onset is usually in adolescence.
Clinical features[edit | edit source]
Clinical features 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.
Cause[edit | edit source]
Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.
Inheritance[edit | edit source]
The disease is transmitted in an autosomal recessive manner.
Latest research[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD