Term
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Definition
- Cell-signaling defect of fibroblast growth factor (FGF) receptor 3.
- Dwarfism, short limbs, but head and trunk are normal size.
- Associated with paternal age.
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Term
| Autosomal-dominant polycystic kidney disease (ADPKD) |
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Definition
- Or Adult polycystic kidney disease.
- ALWAYS BILATERAL, massive enlargement of kidneys due to multiple large cysts.
- Pt's present w/ flank pain, hematuria, hypertension, progressive renal failure.
- 90% of cases are due to mutation of APKD1 (chr 16; 16 letters in "polycystic kidney").
- Assoc'd w/ polycystic liver disease, berry aneurysms, mitral valve prolapse.
- Infantile form is recessive.
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Term
| Familial adenomatous polyposis |
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Definition
- Colon becomes covered w/ adenomatous polyps after puberty.
- Progresses to colon cancer unless resected.
- Deletion on chr 5 (APC gene); 5 letters in "polyp."
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Term
| Familial hypercholesterolemia (hyperlipidemia type IIA) |
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Definition
- 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.
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Term
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |
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Definition
- Inherited disorder of blood vessels.
- Findings: telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations
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Term
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Definition
- Spheroid erythrocytes due to spectrin or ankyrin defect.
- Hemolytic anemia.
- Increase in MHCH.
- Splenectomy is curative.
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Term
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Definition
- Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain.
- Symptoms manifest b/n ages of 20-50.
- Gene on Chr 4; trinucleotide repeat disorder: (CAG)n. "Hunting 4 food."
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Term
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Definition
- 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); cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic aneurysms; floppy mitral valve.
- Subluxation of the lenses
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Term
| Multiple endocrine neoplasias (MEN) |
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Definition
- Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including: pancrease, parathyroid, pituitary, thyroid, and adrenal medulla.
- MEN 2A and 2B are associated with ret gene.
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Term
| Neurofibromatosis type 1 (von Recklinghausen's disease) |
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Definition
- 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, as in the number of letters inn "von Recklinghausen."
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Term
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Definition
- Bilateral acoustic neuroma, juvenile cataracts.
- NF2 gene on chromosome 22; type 2 = 22
- like Ricky Ross!
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Term
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Definition
- 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.
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Term
| von Hippel-Lindau disease |
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Definition
- Findings: hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors
- Assoc'd w/ deletion of VHL gene (tumor suppressor) on chr 3(3p). Three words for Von Hippel-Lindau.
- Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.
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