This syndrome is characterized by a combination of clinical signs in the back of
the neck including a relatively short neck, webbing of the neck due to surplus skin,
and a low hairline on the nape;
heart defects such as disorders of the contraction of the heart and pulmonary
valve and/or artery stenosis (narrowing), etc. Some patients may have a slightly
short stature, a relatively large distance between the nipples, a small penis, and
a number of relatively mild changes in the arm posture in the elbow region and in
the face, etc. In about one third to one half of cases there is a delay in development
of varying degrees. The severity of the disease varies.
During intrauterine life, the prominent findings are nuchal edema, which is usually reabsorbed leaving surplus
skin, and sometimes a heart defect.
A small proportion of these cases are familial, but it is usually a sporadic occurrence
with a single case in the family.