Woodhouse–Sakati syndrome

Woodhouse–Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual disability and extrapyramidal syndrome,[1] is a rare autosomal recessive[2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system.[3]

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

Presentation

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

Treatment

References
  1. Online Mendelian Inheritance in Man (OMIM) 241080
  2. Medica I, Sepcic J, Peterlin B (2007). "Woodhouse–Sakati syndrome: case report and symptoms review". Genet Couns. 18 (2): 227–231. PMID 17710875.
  3. Woodhouse NJ, Sakati NA (1983). "A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities". J. Med. Genet. 20 (3): 216–9. doi:10.1136/jmg.20.3.216. PMC 1049050. PMID 6876115.
  4. Online Mendelian Inheritance in Man (OMIM) 612515
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.