This is a recently reported malformation syndrome involving facial and skeletal bones, as well as the aorta, resulting in a variety of deformities and even life threatening medical problems.
The diagnosis may be suspected at birth based on the facial appearance. The eyes appear prominent and spaced widely apart. The forehead is prominent (frontal bossing), the lid openings slant downward, and the cheek are can be abnormally flat (midfacial hypoplasia). The sternum (breast bone) may be deformed, the joints are often abnormally mobile, the head (skull) appears large and the hips may be dislocated. There are also mild deformities of the digits and long bones.
The most serious problem can be an abnormal aorta which is susceptible to enlargement and rupture. This, however, does not appear in all patients but when it occurs (often acutely) it requires immediate lifesaving intervention.
The mutation causing this condition is located on the X-chromosome and both sexes may be affected. It may occur de novo (new mutation?) but so far only females have had affected offspring.
The diagnosis can be suspected at birth based on the facial appearance but none of the features are diagnostic. The aortic enlargement has been diagnosed as young as 1 year of age but may occur at any time. Because of changes in the bones it is important to do X-rays of the skeleton which can provide confirmatory information.
No data on longevity is available but affected individuals often live to adulthood. Monitoring of the cardiovascular system is important in order to detect life-threatening dilation of the aorta.
No treatment for the overall condition is available but individual deformities may be surgically correctable.