OMIM number: 241080
Comments closing date: 09/04/2019
Woodhouse-Sakati syndrome (WSS) syndrome is a very rare genetic condition. To date 32 families (including 23 with a molecularly confirmed diagnosis) with a total of 76 affected individuals have been reported. It is caused by an alteration in the DCAF17 gene on chromosome 2. It’s inherited in an autosomal recessive pattern, so recurrence risk is 25%. Most of the gene mutations that cause WSS result in a protein that that is abnormally short and break downs quickly or whose usual function is impaired. It remains unclear how shortage of this protein leads to signs of this condition. Virtually all individuals with WSS have the endocrine findings of abnormally low amounts of hormones that direct sexual development (hypogonadism) and progressive childhood-onset hair thinning that often progresses to in the loss of all scalp hair (alopecia totalis) in adulthood. More than half of individuals, 56%, have the neurologic findings of progressive extrapyramidal movements; dystonic spasms - involuntary tensing of the muscles or twisting of specific body parts such as an arm or a leg. Other neurological features can include difficulty with speech (dysarthria) or swallowing (dysphagia). 61% have moderate bilateral post-lingual sensorineural hearing loss, and 58% have mild intellectual disability.
Review date: 12 March 2021