2025 – PAGE 273 – GENETICS & INHERITED DISEASES

GENETIC TESTING

Genetic testing is NOT recommended when dealing with a disease of adult onset because the child has no choice in the matter. I recommend waiting until he or she is old enough to make his or her own decision about testing.

MISCELLANEOUS ABNORMALITIES OF FINGERS AND TOES

• CLINODACTYLY: Most commonly the pinkie finger (5^th digit). It is associated with Down Syndrome, Fetal Alcohol Syndrome, Russell Silver Syndrome, and Pierre-Robin Syndrome.
  • MNEMONIC: downs = down5.
  • MNEMONIC: If you’re having a hard time remembering the definition, think of what it means to CLING on to something. You have to “CURVE” your fingers!
• SANDAL TOE DEFORMITY: Down Syndrome
• 2–3 SYNDACTYLY: Fused 2^nd and 3^rd digits are found in Smith-Lemli-Opitz
  • IMAGE: www.pbrlinks.com/SLO1
  • MNEMONIC: smYth lemlY opYtz since they look like a “Y”
• SMALL 5^th FINGERNAIL: Fetal Alcohol Syndrome
• SHORT 4^th AND 5^th FINGER: Turners Syndrome
• TRIPHALANGEAL THUMBS: Holt Oram SYNDROME and Diamond-Blackfan Anemia
• HYPOPLASTIC DISTAL PHALANGES: Due to Warfarin exposure in utero