Woodhouse–Sakati syndrome

Woodhouse–Sakati syndrome
Woodhouse–Sakati syndrome has an autosomal recessive pattern of inheritance.

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]

Signs and symptoms

a) Pedigree showing consanguineous parents and the affected sisters b,c)dysmorphic face and alopecia

The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, intellectual disability and diabetes mellitus. Electrocardiogram anomalies have also been reported.^[2]

Genetics

Mutations in the C2orf37 gene, located at human chromosome 2q22.3-q35, are believed to be a cause of Woodhouse–Sakati syndrome.^[1][4] The disorder is inherited in an autosomal recessive manner.^[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. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Diagnosis

There are no established guidelines for a diagnosis, however a combination of clinical features associated with this condition, along with hypogonadism and neurological issues should warrant further investigation via:^[5]

• MRI
• Evoked potential or evoked response
• Genetic test

Treatment

Management is based as follows, dystonia is treated with anticholinergics, intellectual disability must be managed with educational support. Any further manifestation should be managed via the appropriate treatment.^[5]

References

External links