Is one of the NBIA disorders caused by a mutation in the DCAF17 gene and characterized by both neurologic and endocrine symptoms.

The first symptoms of Woodhouse-Sakati syndrome are typically found in individuals ranging from age 10 to the early 20s.

It has been described in patients from Middle East, Europe, North Africa, India and Pakistan. A founder mutation accounts for the cases in the Middle Eastern population.


The first symptoms appears typically at age 10 to the early 20s.

Common symptoms


It is a multisystemic disorder.

There may be various craniofacial abnormalities such as a high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism which is an abnormally increased distance between the eyes, and down-slanting palpebral fissures.

Hyperreflexia (overactive or over responsive reflexes), and camptodactyly which involves the fixed flexion deformity of the interphalangeal joints of the little finger are also seen.

 Also seen are flattened T waves on an ECG, seizures, sensory polyneuropathy,

 MRI findings for Woodhouse-Sakati

Diagnosis of Woodhouse-Sakati syndrome is confirmed through genetic testing of the DCAF17 gene to find two gene changes. Genetic testing begins with sequence analysis, and if no gene changes are found, then it continues on to deletion/duplication analysis.

Very rarely, an individual with the signs and symptoms of Woodhouse-Sakati syndrome will have only one or even no DCAF17 gene changes identified. In these cases it becomes very important to have doctors experienced with Woodhouse-Sakati syndrome review the MRI and the person’s symptoms very carefully to be as sure as possible of the diagnosis.


There is no standard treatment for Woodhouse-Sakati. A team of medical professionals can recommends treatments based on current symptoms.

The extent of their disease can be determined by

Therapies to manage dystonia

Long-term surveillance for Woodhouse-Sakati


 In most individuals, the first symptoms of Woodhouse-Sakati syndrome appear in adolescence.

The average lifespan varies for individuals with Woodhouse-Sakati syndrome, but due to improvements in medical care, more affected individuals are now living well into adulthood.


The altered DCAF17 gene inherited in an autosomal recessive manner is the cause Woodhouse-Sakati. “Autosomal” refers to the fact that the DCAF17 gene is located on chromosome 2, which is one of the autosomes (chromosome pairs 1-22). “Recessive” refers to the fact that a mutation must be present in both copies of the DCAF17 gene for a person to have Woodhouse-Sakati syndrome.

When both parents are carriers (having a copy of an altered gene),there is a 25% chance to have a child having Woodhouse-Sakati and 50% chance that the child will be a carrier like his/her parents and a 25% chance that the child will not have Woodhouse-Sakati or be a carrier.

Carrier testing for at-risk relatives and prenatal testing for pregnancies at risk are suggested if both disease-causing mutations have been identified in an affected family member.

Prenatal Test

If the disease-causing mutations have been identified in the family, prenatal diagnosis for pregnancies at increased risk can be done. In one test, DNA is extracted from fetal cells obtained by amniocentesis, usually at 15 to 18 weeks’ gestation, and analyzed. Or, sampling is done of the chorionic villus, the tiny finger-like projections on the edge of the placenta, usually at 10 to 12 weeks’ gestation.

Embryo screening, known as preimplantation genetic diagnosis, may be an option for some families in which the disease-causing mutations have been identified.