Jackson-Weiss Syndrome

Background and History: 

This is one of a group of inherited conditions with abnormal skull shapes because the various bones are abnormally fused.  This leads to deformities and sometimes increased pressure in the brain.  The face may also be abnormally shaped resulting in unusually prominent eyes. 

Clinical Correlations: 

The skull often appears abnormally tall but with a decreased distance from front-to-back.  The face appears flattened and because the eye sockets are often shallow, the eyes can appear unusually prominent.  The fusion of the skull bones is highly variable and, if severe, may require surgery (craniectomy) to allow for further skull growth. Hydrocephalus (‘water on the brain’) occurs rarely. Individuals are usually of normal intelligence.

In Jackson-Weiss syndrome there are no hand anomalies but the feet and toes can be deformed.  The large toes may be abnormally large and may deviate to the inside.  Other bones in the foot may also be misshapen and sometimes the ankle bones are fused.

Blinking may be impeded from the facial malformation and sometimes additional lubrication is necessary to keep the globes moisturized.  The eyes often do not appear straight (strabismus).  When the pressure in the brain is high, the optic nerves can be damaged resulting in vision loss.


This syndrome is inherited in an autosomal dominant pattern, i.e., in a vertical pattern from parent to child.  However, the gene change (mutation) commonly appears sporadically without a family transmission pattern in which case it may be a new mutation.  Affected parents can expect that half of their children will inherit this condition. 

Diagnosis and Prognosis: 

The misshapen skull is evident at birth.  A complete evaluation by a multidisciplinary team of specialists such as neurosurgeons, orthopedists, neurologists, pediatricians, plastic surgeons, ophthalmologists, etc., should always be performed to identify associated problems.

Jackson-Weiss syndrome patients can expect to live a normal life span. The cornea of the eye (clear windshield) must not be allowed to dry out and an ophthalmologist should monitor this.  Neurosurgical treatment may be required if the pressure inside the skull is too high and skull growth needs to be monitored in case craniectomies (skull surgery) are needed to allow for normal brain growth.

Additional Information
Autosomal dominant