Genetic Disorders & Down Syndrome

Question 1

Trisomy 21

Answer 1

-Down syndrome (extra 21st chromosome)

Question 2

Dysmorphisms

Answer 2

-physical characteristics in patients with genetic disorders

Question 3

Characteristics of Down syndrome

Answer 3

• unusual hair pattern
• high forehead
• wide set eyes
• epicanthal folds
• flattened nose bridge
• small mouth/large tongue
• short stature/limbs/digits
• obesity
• low set ears
• webbed digits
• palm crease
• microcephaly
• flat occiput
• flat facial features
• high arched palate
• short neck
• scoliosis
• anemia

Question 4

Impairments with Down syndrome

Answer 4

• coordination
• cognition/intellectual disability
• low tone
• hypermobility
• weakness
• diastasis recti
• atlantoaxial instability
• mild microcephaly
• developmental delay