The syndrome is associated with multiple signs:
short stature, obesity, and complex skeletal malformations that can include skeletal
abnormalities affecting the hands and/or forearms (hypoplasia, complete
absence of the bone on the outer aspect of the forearm [ulna] and third,
fourth and fifth fingers). Additionally, affected infants may have
additional finger malformations with or without ulnar and/or digital
abnormalities on the other side of the body. Other abnormalities associated
with Schinzel syndrome include absent or incorrectly positioned (ectopic)
teeth, delayed growth, uterine and vaginal abnormalities, hypogenitalism
(delayed puberty), subglottic stenosis, inguinal hernia, anal atresia,
pyloric stenosis, and kidney agenesia or ectopy.