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12 Cards in this Set
- Front
- Back
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Synpolydactyly
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HOXD-13 - extra digit w/ fusion
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Waardenburg syndrome
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PAX-3 - cranifacial abnormalities a/w hearing loss, abnormal pigmentation
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Nail-patella syndrome
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Hypoplastic nails, patella, dislocated radial head progressive nephropathy
LMX1B |
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Ulnar-mammary syndrome
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TBX3 Hypoplasia or absent ulna, 3rd-5th digits, breast, teeth, delated puberty
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Jansen Metaphyseal chondroplasia
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PTHrp receptor
Short bowed limbs, clindodactyly, facial abnormalities, hyperalcemia, hypophosphatemia |
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Achodroplasia
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FGFR3 - short stature, rhizomelic shortening of limbs, frontal bossing, midface deficiency
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Hypochondroplasia
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FGFR3 - disproportionate short stature, micromelia, relative mcrcephaly
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Thanatophoric dwarfism
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FGFR3 severe limb shortening and bowing, frontal bossing, depressed nasal bridge
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Crouzon syndrome
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FGFR2 craniosynstosis
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Osteogenesis imperfecta
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COL1A1 - affects type 1 collagen
brone fragility, hearing loss, blue sclerae |
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Dentinogenesis imperfecta
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COL1A2
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Achondrogenesis II
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COL2A1 Type 2 collagen
short trunk, severely shortened extremities, relatively enlarged cranium, flattened face |
