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Flashcards in Genoderms Syndrome Deck (257)
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241

Name some of the findings of Beckwith-Weidham syndrome

Linear crease in the ear
Helical depressions
Macroglossia
Wilms tumor

242

Name the tumor associated with Beckwith-Weidham syndrome

Wilms tumor

243

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)

244

What is usually the first presenting symptom in Fabrys?

Burning pain of the hands and feet

245

Keratitis
Icthyosis
Deafness

KID syndrome! Defect in GJB2 (encoded connexin 26)

246

Glomerulonephritis
Posterior iliac horns
Hypoplastic patella
Triangular lunulae
Thickened scapula
Radial head subluxation

Nail Patella syndrome

247

Name the findings in Nail Patella syndrome

P-posterior iliac horns
A-Absent patella
T-thickened scapula
E- eye-Lester iris
L-lunulae, triangular
L - gLomerulonephritis

248

Granular cell tumor is associated with which Genoderm?

Noonan Syndrome

249

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)

250

Defect in adenosine deaminase ADA

AR form of SCID

251

Which genoderm has an increased risk of DFSP?

SCID

252

Gene defect in congenital contractural arachnodactyly

Fibrillin 2

*can also be seen in Marfans. This condition has *Crumpled ears, long limbs, and arachnodactyly

253

What type of neuro cancer do you get with Basal Cell Nevus syndrome?

Medullablastoma

254

What solid organ tumor do patient's with BCNS get?

Ovarian fibroma

255

Fibrillin 1
Fibrillin 2
Fibulin 5

Fibrillin 1 is Marfans
Fibrillin 2 is congenital contractural arachnodactyly
Fibulin 5 is Cutis Laxa

256

Name all of the XLD genoderms

BIG ChOMP

Bazex
Incontinentia Pigmenti
Goltz
CHILD
H
Oro-facial Digital Syndrome
MIDAS syndrome
P Chondrodysplasia Punctata

257

Name the XLR genoderms

CHADS KINKY WIFE CHANDA

Chronic Granulomatous Disease
Hunter
Anhidrotic Ectodermal Dysplasia
Dyskeratosis Congenitas
SCID
Kinky - Menkes kinky hair
Wiscott-Aldrich
Ichthyosis, X linked
Fabry
Ehlers-Danlos
Chondrodysplasia Punctata (not Conrad)
Hypohidrotic ED with Immunodeficiency
Agammaglobulinemia, Briton
N: Lesch Nyhan