DOWN SYNDROME
in 700 live births- >60% spontaneously aborted
- 20% stillborn
- Facial appearance permits diagnosis
- Marked muscle hypotonia as baby
- Single palmar crease may be present
- Learning difficulty (IQ usually <50)
- Congenital heart malformations (40%)
- Many other associated features
PHYSICAL
People with Down syndrome may have some or all of the following physical characteristics((small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and large tongue))- These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome
- Other common features include: a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal atterns
on the fingertips and short fingers. Hip dislocations may occur without - trauma in up to a third of people with Down syndrome.