1. Achondroplasia
    • Autosomal Dominant
    • Cell-signaling defect of fibroblast growth factor receptor 3.

    dwarfism, short limbs, but head and trunk are normal size
  2. ADPKD
    • Bilateral, massive enlargement of kidneys due to multiple large cysts.
    • Flank pain, hematuria, htn, progressive renal failure.
    • Chromosome 16

    Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse.
  3. Familial adenomatous polyposis
    • Autosomal Dominant
    • Deletion on chromosome 5
    • polyps on colon -> cancer if not resected
  4. Familial hypercholesterolemia
    • (hyperlipidemia type IIA)
    • Elevated LDL due to defective or absent LDL

    Severe atherosclerotic disease early, tendon xanthomas(achilles), hypertrophic cardiomyopathy -> MI before 20yoa
  5. Osler-Weber-Rendu syndrome
    • Hereditary hemorrhagic telangiectasia
    • Autosomal Dominant
    • Inherited disorder of blood vessels

    Telangiectatia, recurrent epistaxis, skin discolorations, AVMs.
  6. Hereditary Spherocytosis
    Autosomal dominant

    • Spheroid erythrocytes due to spectrin or ankyrin defect.
    • hemolytic anemia
    • DX: osmotic Fragility test.
    • TX: splenectomy
  7. Huntington's Disease
    • Autosomal Dominant
    • CAG trinucleotide repeat
    • caudate atrophy -> decrease levels of GABA and ACh in brain

    Depression, progressive dementia, choreiform movements.

    Chromosome 4
  8. Marfan's Syndrome
    • Autosomal dominant
    • Fibrillin gene mutation

    Tall with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly, aortic dissection, floppy mitral valve, sublxation of lenses.
  9. Multiple Endocrine neoplasia 1
    • Autosomal Dominant
    • Tumor of pituitary, parathyroid, pancreas
  10. Multiple Endocrine neoplasia 2A
    • Tumor of medullary thyroid carcinoma , parathyroid, and pheochromocytoma
    • ret gene association
  11. Multiple Endocrine neoplasia 2B
    • Autosomal Dominant
    • Tumor of the head,medullary thryoid carcinoma, pheochromocytoma
    • Associated with ret gene
  12. Von Recklinghausens disease
    • Neurofibromatosis type 1
    • Autosomal Dominant

    Cafe-au-lait spots, neural tumors, Lisch nodules, scoliosis, and optic pathway gliomas.

    Chromosome 17
  13. Neurofibromatosis type 2
    • Autosomal Dominant
    • Bilateral acoustic schwannomas, juvenile cataracts
    • chromosome 22
  14. Tuberous Sclerosis
    • Autosomal dominant
    • Facial lesions (adenoma sebaceum), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas

    Variable presentation
  15. von-Hippel Lindau disease
    • Autosomal Dominant
    • Hemangioblastomas of retina/cerebellum/ medulla, bilateral renal cell carcinomas.

    Deletion of VHL gene on chromosome 3. -> constitutive expression of HIF and activation of angiogenic growth factor.
Card Set
STEP review