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16 Cards in this Set

  • Front
  • Back
Synpolydactyly
HOX
Syndactyly
HOX
Hand/food/genital syndrome
HOX
ex. Hypospadia
Split hand/foot Malformation
HOX
ex. Lobster
Holoprosencephaly
SHG
cleft lip, microcephaly, MR, 1 front tooth
Aniridia
PAX
no iris, also cataract
Waardenburg Syndrome
PAX
Melanocyte dysfxn
1. white forlock
2. lateral eyes
3. deaf (cochlea)
Rubenstein-Taybi Syndrome
Creb-binding protein mutation
MR, big toes/thumbs, abnml face
Crouzon Syndrome
FGFR
Craniosynostosis
premature cranial suste fusion
flat midface
Apert Syndrome
FGFR
Craniosynostosis
premature cranial suste fusion
w/Syndactyly
Paternal age effect
Achondroplasia
FGFR
Dwarfism
frontal bossing, lordosis, trident hand
paternal age effect
Treacher-Collins Syndrome
TCOF1
craniofascial
ear, eyes, maxilla hypoplasia
Cornelia Delange Syndrome
Delangin gene
unibrow, long eyelashes, depressed nose/upturned
William's Syndrome
Elastin DELETION
MR, PIXIE, bad visuospacial, good language/social skills
Prader- WIlli syndrome
MOM IMPRINTING
obestity, overeating, hypogonadal, MR
30% Parental disomy (both from 1 parent)
Angelman Syndrome
DAD IMPRINTING
ataxic gait, MR, smile/laugh= happy puppet