Across
- 4. Angiokeratomas (skin lesions) over lower trunk, fever,severe burning pain in extremities, cardiovascular and involvement.
- 10. Stunted growth, hepatomegaly, hypoglycemia.
- 12. Tubers (glial nodules), seizures, mental retardation.Associated with adenoma sebaceum (facial lesion), myocardial rhabdomyomas, renal angiomyolipomas.
- 13. Depigmentation, pink eyes, increased risk of skin cancer.
- 15. lysosomal storage disease characterized by splenomegaly,hepatomegaly and bone marrow infiltration.
- 19. Dry skin, melanomas, pre-malignant lesions, other cancers.Ophthalmic and neurologic abnormalities.
- 21. disorders is characterized by progressive motor, cognitive and psychiatric abnormalities.
- 23. Symptoms result from accumulation of phenylalanine itself.Mental deterioration, hypopigmentation (blond hair and blue
- 24. Mental retardation, micrognathia, rocker-bottom feet,congenital heart disease, flexion deformities of fingers. Deathby 1 year old.
- 25. Mental retardation, ataxic gait, seizures.Inappropriate laughter.
- 27. CNS degeneration, retardation, cherry red-spot of macula,blindness (amaurosis). Death before age 4.
- 29. Sequestration of spherocytes in spleen -hemolytic anemia.
- 31. malgormation of the brain dysmorphic facial features,mental retardation.
- 33. Elevated renin and aldosterone, hypokalemic alkalosis. No hypertension.
- 34. pancreatic insufficiency due to fibrotic lesions, obstruction Of lungs due to thick mucus and lung infections.
- 35. Urine turns dark and black on standing, ochronosis(dark pigmentation of fibrous and cartilage tissues), ochronotic arthritis, cardiac valve
Down
- 1. First to introduce medicinal experimentation
- 2. Hyperuricemia (gout), mental retardation, self-mutilation(autistic behavior), choreoathetosis, spasticity.
- 3. Second most common cause of mental retardation next to Down Syndrome. Macro-orchidism (enlarged testes) in males.
- 5. Severe fasting hypoglycemia, hepatomegaly from lots of glycogen in liver.
- 6. Cardiomegaly, hepatomegaly, and systemic findings,leading to early death.
- 7. represent a broad group of developmental disorders characterized by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviors or severely limited activities and interests.
- 8. enhanced absorption of dietary iron with accumulation of abnormal, pigmented, iron- protein aggregates in visceral organs.
- 9. Failure to thrive, infantile cataracts, mental retardation.Progressive hepatic failure, cirrhosis, death.
- 11. disease passed down through families (inherited) that mainly affects the bone marrow eyes), mousy body odor (from phenylacetic acid in urine and sweat).
- 14. Usually phenotypically normal. May see menstrual abnormalities or mild mental retardation in some cases.
- 16. short limbs relative to trunk, prominent forehead, low nasal root redundant skin folds on arm and legs.
- 17. Pellagra-like syndrome (diarrhea, dementia, dermatitis),light-sensitive skin rash, temporary cerebellar ataxia.
- 18. Multiple fractures after birth, blue sclerae, thin skin,progressive deafness in some types (due to abnormal middle ear ossicles).
- 20. Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.
- 22. "Cry of the cat." Severe mental retardation, microcephaly,-like cry. Low birth-weight, round-face, hypertelorism(wide-set eyes), low-set ears, epicanthal folds
- 26. Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.
- 28. Similar to but less severe than Hurler Syndrome.Hepatosplenomegaly, micrognathia, retinal degeneration,jointstiffness, mild retardation, cardiac lesions.
- 30. Most common cause of mental retardation. Will see epicanthal folds, simian crease, brushfield spots in eyes.
- 32. a biologist who Created the process of pasteurization for treating milk and wine.