Table 1. Incidence of Phenotypes
System
Feature
 Incidence
Skeletal
Short stature
100%
Osteoporosis
50%
Cubitus valgus
(increased carrying angle at elbow)
45%
Short metacarpals
(bones of fingers or knuckles)
35%
High arched palate
35%
Reproductive
Primary gonadal failure
95%
Infertility
98%
Gonadoblastoma
3%
Lymphatic (obstruction)
Webbed neck
25%
Low posterior hairline
40%
Swelling of hands and/or feet
20%
A distinctive type of nail curvature
12%
Cardiovascular
Coarctation of the aorta
5%
Bicuspid aortic valve
15%
High blood pressure
25-40%
Orther embryogenic
Structural abnormalities in kidney
35%
Pigmented nevi
(colored spots on skin)
25%
Neurological
Spatio-visual
70-80%
Behavioral
70-80%
Sensorineural hearing loss
30%
Endocrine
Hypothyroidism (Hashimoto's)
35%
Carbohydrate intolerance
30-40%