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13 Cards in this Set

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Achondroplasia
Cell-signaling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs, but head and trunk are normal size. Associated with advanced paternal age.
Autosomal-dominant polycystic kidney disease (ADPKD)
Formerly known as adult polycystic kidney disease. Always bilateral, massive enlargement of kidneys due to multiple large cysts. Patients present with flank pain, hematuria, hypertension, progressive renal failure. 90% of cases are due to mutation in APKD1 (chromosome 16; 16 letters in "polycystic kidney"). Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse. Infantile form is recessive.
Familial adenomatous polyposis
Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Deletion on chromosome 5 (APC gene); 5 letters in "polyp."
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Inherited disorder of blood vessels. Findings: telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs).
Huntington's disease
Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and decreases levels of GABA and ACh in the brain. Symptoms manifest in affected individuals between the ages of 20 and 50. Gene located on chromosome 4; trinucleotide repeat disorder: (CAG)n. "Hunting 4 food."
Hereditary spherocytosis
Spheroid erythrocytes due to spectrin or ankyrin defect; hemolytic anemia; increased MCHC. Splenectomy is curative.
Marfan's syndrome
Fibrillin gene mutation -> connective tissue disorder affecting skeleton, heart, and eyes. Findings: tall with long extremities, pectus excavatum, hyperextensive joints, and long, tapering fingers and toes (arachnodactyly; see Image 99); cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic aneurysms; floppy mitral valve. Subluxation of lenses.
Multiple endocrine neoplasias (MEN)
Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla. MEN 2A and 2B are associated with ret gene.
Neurofibromatosis type 2
Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on chromosome 22; type 2 = 22.
Tuberous sclerosis
Findings: facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas. Incomplete penetrance, variable presentation.
von Hippel-Lindau disease
Findings: hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p). Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors. Von Hippel-Lindau = 3 words for chromosome 3.
Familial hypercholesterolemia (hyperlipidemia type IIA)
Elevated LDL due to defective or absent LDL receptor. Heterozygotes (1:500) have cholesterol > 300 mg/dL. Homozygotes (very rare) have cholesterol > 700+ mg/dL, severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20.
Neurofibromatosis type 1 (von Recklinghausen's disease)
Findings: cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (e.g., scoliosis), optic pathway gliomas, pheochromocytoma, and increased tumor susceptibility. On long arm of chromosome 17; 17 letters in von Recklinghausen.