Woodhouse–Sakati syndrome

From WikiMD's Wellnesspedia

Other Names[edit | edit source]

Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities; Woodhouse-Sakati syndrome; Diabetes-hypogonadism-deafness-intellectual disability syndrome

Autosomal recessive gene
Autosomal recessive gene

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]

PubMed

External links[edit | edit source]

Wikipedia

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Contributors: Prab R. Tumpati, MD