Woodhouse–Sakati syndrome
| Woodhouse–Sakati syndrome | |
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| Woodhouse–Sakati syndrome has an autosomal recessive pattern of inheritance. | |
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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
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.[citation needed]
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
- ↑ 1.0 1.1 Online Mendelian Inheritance in Man (OMIM): 241080
- ↑ 2.0 2.1 2.2 Medica I, Sepcic J, Peterlin B (2007). "Woodhouse–Sakati syndrome: case report and symptoms review". Genet Couns. 18 (2): 227–231. PMID 17710875.
- ↑ 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.
- ↑ Online Mendelian Inheritance in Man (OMIM): 612515
- ↑ 5.0 5.1 Bohlega, Saeed A.; Abusrair, Ali (1993). "Woodhouse-Sakati Syndrome". GeneReviews®. University of Washington, Seattle. Archived from the original on 20 January 2022. Retrieved 30 June 2022.
External links
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