Flashcards in Genoderms Syndrome Deck (257)
Name some of the findings of Beckwith-Weidham syndrome
Linear crease in the ear
Name the tumor associated with Beckwith-Weidham syndrome
12 year old boy with pains in the hands and feet
Whorled corneal opacities
Small red clustered papules on the body
Heart, kidney, GI problems
Fabry disease (defect in alpha-galactadose resulting in the accumulation of glycosphingolipids)
What is usually the first presenting symptom in Fabrys?
Burning pain of the hands and feet
KID syndrome! Defect in GJB2 (encoded connexin 26)
Posterior iliac horns
Radial head subluxation
Nail Patella syndrome
Name the findings in Nail Patella syndrome
P-posterior iliac horns
E- eye-Lester iris
L - gLomerulonephritis
Granular cell tumor is associated with which Genoderm?
XLR mutation of SCID
Defect in the y chain of the IL-2 receptor
*the AR form of SCID is due to defect in JAK3 or ADA (adenosine deaminase)
Defect in adenosine deaminase ADA
AR form of SCID
Which genoderm has an increased risk of DFSP?
Gene defect in congenital contractural arachnodactyly
*can also be seen in Marfans. This condition has *Crumpled ears, long limbs, and arachnodactyly
What type of neuro cancer do you get with Basal Cell Nevus syndrome?
What solid organ tumor do patient's with BCNS get?
Fibrillin 1 is Marfans
Fibrillin 2 is congenital contractural arachnodactyly
Fibulin 5 is Cutis Laxa
Name all of the XLD genoderms
Oro-facial Digital Syndrome
P Chondrodysplasia Punctata