Woodhouse–Sakati syndrome
| Woodhouse–Sakati syndrome | |
|---|---|
 | |
| Woodhouse–Sakati syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Genetics |
| Frequency | Fewer than 1 in 1,000,000 |
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]
Presentation
The syndrome is characterized by progressive hair thinning in childhood that often progresses to
Electrocardiogram anomalies have also been reported.[2]
Genetics
Mutations in the
carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed
]
Diagnosis
Like with most other
MRI is used to detect iron accumulation in the brain. A blood test can also be used to detect low insulin-like growth factor 1
levels.
Diagnosis of Woodhouse-Sakati syndrome requires genetic testing of the DCAF17 gene, which scans for two specific gene changes. The testing begins with sequence analysis, and if no changes are found, continues with deletion and duplication analysis.[6]
Treatment
![[icon]](/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (August 2017) |
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 241080
- ^ PMID 17710875.
- PMID 6876115.
- PMID 27489925. Retrieved 27 January 2023.
- ^ Online Mendelian Inheritance in Man (OMIM): 612515
- ^ "Woodhouse-Sakati | NBIA".