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