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