Genetic Disorders Overview

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Questions and Answers

Which of the following are facial features of a baby with possible Down syndrome? (Select all that apply)

  • Short nose (correct)
  • Broad flat face (correct)
  • Slanting eyes (correct)
  • Pointed chin

What are common characteristics of hands and feet in a baby with possible Down syndrome? (Select all that apply)

  • Short and broad hands (correct)
  • Long slender fingers
  • Palm crease (correct)
  • Many loops on finger tips (correct)

Which features are included in the oral cavity characteristics of a baby with possible Down syndrome? (Select all that apply)

  • Big, wrinkled tongue (correct)
  • Dental anomalies (correct)
  • Small and arched palate (correct)
  • Normal-sized uvula

What is a potential sign of growth failure in a baby with possible Down syndrome?

<p>Diminished muscle tone</p> Signup and view all the answers

A medical professional can definitively diagnose a genetic syndrome.

<p>True (A)</p> Signup and view all the answers

A big, wrinkled ______ can be a characteristic feature of a baby with possible Down syndrome.

<p>tongue</p> Signup and view all the answers

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Study Notes

Facial Features

  • Broad, flat face
  • Slanting eyes
  • Epicanthic eyefold (a fold of skin across the inner corner of the eye)
  • Short nose

Hands and Feet

  • Short and broad hands
  • Many "loops" on fingertips
  • Single crease across palm of hand
  • Big toes widely spaced

Oral Cavity

  • Small and arched palate (roof of mouth)
  • Big, wrinkled tongue
  • Dental anomalies (abnormalities in teeth)

Other Features:

  • Growth failure
  • Mental retardation
  • Flat back of the head
  • Abnormal ears
  • Special skin ridge patterns
  • Unilateral or bilateral absence of one rib
  • Intestinal blockage
  • Umbilical hernia
  • Abnormal pelvis
  • Diminished muscle tone
  • Congenital heart disease
  • Enlarged colon

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