Symptoms
Signs and symptoms of this progressive disorder include a distinctive appearance:
- Slowed growth, with below-average height and weight
- Narrowed face, small lower jaw, thin lips and beaked nose
- Head disproportionately large for face
- Prominent eyes and incomplete closure of the eyelids
- Hair loss, including eyelashes and eyebrows
- Thinning, spotty, wrinkled skin
- Visible veins
- High-pitched voice
- Hardening and tightening of skin on trunk and extremities (similar to scleroderma)
- Delayed and abnormal tooth formation
- Some hearing loss
- Loss of fat under the skin and loss of muscle mass
- Fragile bones
- Stiff joints
- Hip dislocation
- Insulin resistance
- Severe progressive heart and blood vessel (cardiovascular) disease