SPECIAL - Syndromes Flashcards
Von Hippel-Lindau disease
AD, chromosome 3; RCCs (clear cell), renal cysts, pheochromocytomas, pancreatic islet cell tumors, serous cystadenomas (pancreas), pancreatic cysts, liver cysts, hemangioblastomas (brain, cord), endolymphatic sac tumors, choroid plexus papillomas
Tuberous sclerosis
spontaneous and AD, chromosome 16; multiple AMLs, renal cysts, cardiac rhabdomyomas, cortical hamartomas (tubers), subependymal nodules, SEGAs, lymphangioleiomyomatosis; seizures, developmental delay
Down syndrome
endocardial cushion defects/ASD/VSD, echogenic bowel, duodenal atresia, calcified papillary muscle, Hirschsprung’s, omphalocele, DDH; mental retardation, early Alzheimer’s; increased risk of leukemia; assoc. with annular pancreas
Trisomy 18 (Edwards syndrome)
strawberry skull, congenital heart disease, choroid plexus cysts, cleft lip/palate, omphalocele, CDH, horseshoe kidney, hydronephrosis, clenched hands, rocker bottom feet, single umbilical artery
Trisomy 13 (Patau syndrome)
holoprosencephaly, cleft lip/palate, congenital heart disease, polycystic kidneys, bladder exstrophy, polydactyly, rocker bottom feet
NF1 (von Recklinghausen disease)
sporadic and AD, chromosome 17; cafe au lait spots, neurofibromas, optic gliomas, FASI, renal artery stenosis, sphenoid wing dysplasia, Lisch nodules, dural ectasia; increased risk of pheochromocytomas, MPNSTs, Wilms, rhabdomyosarcoma, AMLs, gliomas, carcinoid, leiomyosarcoma (and some others), non-lymphocytic leukemia
NF2
chromosome 22; multiple intracranial schwannomas, meningiomas, and enchondromas (MISME)
Gaucher disease
AR; deficiency of glucocerebrosidase; H-shaped vertebral bodies, Erlenmeyer flask deformity, osteonecrosis (esp. femoral heads), splenomegaly +/- nodules
Beckwith-Wiedemann syndrome
sporadic, 15% AD, chromosome 11; hemihypertrophy, omphalocele, macroglossia, cardiac anomalies, organomegaly, neonatal hypoglycemia; increased risk of Wilms, rhabdomyosarcoma, neuroblastoma, pancreatoblastoma, hepatoblastoma, nephroblastomatosis; assoc. with hypospadia, cryptorchidism, nephrolithiasis, polyhydramnios
Birt-Hogg-Dube syndrome
AD; skin lesions, cystic lung disease, multiple oncocytomas and RCCs (chromophobe)
Behcet disease
oral and genital ulcers, uveitis, arthralgias, pulmonary artery aneurysms
Ollier disease
multiple enchondromas
Maffucci syndrome
multiple enchondromas, venous malformation/hemangiomas
Mazabraud syndrome
polyostotic fibrous dysplasia, multiple soft tissue myxomas
McCune-Albright syndrome
polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty
Sturge-Weber syndrome
port wine stain (V1 distribution), subcortical calcification, parenchymal volume loss; seizures, developmental delay, +/- hemiplegia/hemiparesis; assoc. with aortic coarctation, paragangliomas
Familial adenomatous polyposis (FAP)
AD, chromosome 5, ⅓ cases are sporadic; increased risk of colorectal cancer, hepatoblastoma (400x), desmoid tumors, osteomas
Gardner syndrome
FAP + desmoid tumors, osteomas, papillary thyroid cancer, epidermoid cysts
Turcot syndrome
FAP + gliomas, medulloblastomas
Lynch syndrome (HNPCC)
AD, DNA mismatch repair; adenomatous colon polyps; increased risk of endometrial, gastric, small bowel, liver, and biliary malignancy
Peutz-Jeghers syndrome
AD; GI hamartomas (small bowel especially), perioral mucocutaneous pigmented spots; increased risk of gynecologic, gastric, duodenal, and colonic malignancy
Cowden syndrome
AD; GI hamartomas, skin/mucous membrane hamartomas; increased risk of breast, thyroid (follicular), Lhermitte-Duclos, skin, oral, and uterine malignancy
Cronkhite-Canada syndrome
non-inherited; GI hamartomas, abnormal skin pigmentation, alopecia, onychodystrophy
MEN 1
parathyroid hyperplasia, pituitary adenoma, pancreatic islet cell tumors