1. Genetic Disorders
Profiles of topics

3. Albinism
Disorder in melanin production resulting in little or no pigmentation in the hair, skin, and eyes. It varies in severity.

4. ALS - Amyotrophic Lateral Sclerosis
Neurological disease that attacks nerve cells that control skeletal muscles.

5. AAA Syndrome
Affected individuals have 2 or 3 of the following: achalasia, Addison disease, and alacrima

6. Anencephaly
Defect in the closure of the neural tube during fetal development
Baby is missing a major portion of the brain, skull, and scalp.

7. Angelman Syndrome
Mental retardation, small head, seizures, and bouts of laughter not associated with happiness

8. Becker Muscular Dystrophy
weakness in muscles of upper body happens faster
wheelchair-bound between ages 25-30

9. Bloom’s Syndrome
Higher risk of childhood cancer, chronic pulmonary disease and Type 2 diabetes
smallish stature, sun-sensitive skin, & a bloated nose.

10. Hereditary Breast Cancer
Occurs in men & women
Formation of lump in breast or underarm
Detected with mammogram

11. Brittle Bone Disease aka Osteogenesis Imperfecta Lethal to mild cases
Results in fragile or misshapen bones

12. Canavan Disease
Causes brain tissue degeneration so that parts of the brain cells don’t complete development and die.
Most children die by age 10.

13. Celiac Disease Cannot digest gluten
If undiagnosed, it leads to malnutrition, dehydration and severe diarrhea.
Can cause abdominal bloating

14. Colorblindness

15. Cystic Fibrosis

16. Type 1 Diabetes Abnormally high blood sugar levels Occurs at any age
Not usually caused by lifestyle

17. Down Syndrome
Down Syndrome is a genetic disorder in which a person is born with extra genetic material that causes mental and physical developmental problems. Symptoms include flattened facial features and poor muscle tone.

18. Duchenne Muscular Dystrophy
Causes fatigue and muscle weakness
usually affected children are confined to wheelchairs by age 12

19. Edwards Syndrome
Half of the babies with this syndrome die within the first week.
Causes heart and kidney, craniofacial, and limb defects

20. Ehlers-Danlos Syndrome
Symptoms include loose joints, skin that stretches easily, and easy bruising.

21. Epidermolysis Bullosa
Inherited connective tissue disorder causing blisters, friction between layers of skin and skin fragility.
Severity ranges from mild to lethal.

22. Fabry Disease
Lack of an enzyme that helps break down lipids, which builds up in the eyes and kidneys.

23. Fish Odor Syndrome aka Trimethylaminuria Symptoms present from birth
Smell comes out in urine, sweat and breath.

24. Fragile X Syndrome Low IQ Speech & language problems
Physical challenges

25. Hemophilia
A blood disorder in which blood does not properly clot, leading to complications. Spontaneous bleeding can occur. Common symptoms are bruises, swelling, pain, or tightness in joints, inability to stop bleeding from injuries.

26. Hermaphrodism/Intersex
Intersex or hermaphrodism (old term) refers to a a group of conditions where there is a discrepancy between the external genitals and the internal genitals (ovaries and testes).

27. Hirschsprung’s Disease
Part of the intestine lacks nerve cells that enable the person the ability to poop

28. Huntington’s Disease An inherited disease that
causes breakdown of nerve
cells in the brain. This has
a large impact on a person’s ability to move, thinking and psychiatric disorders. Most
people develop signs in their 30s or 40s.

29. Males who have XXY sex chromosomes
Kleinfelter Syndrome
Males who have XXY sex chromosomes

30. Leigh’s Disease
Mitochondrial (metabolic) problem affects central nervous system
Most children die before age 7, though some survive to 17

31. Marfan Syndrome
A genetic disorder that affects the body’s connective tissue. Connective tissue holds all of the cells, tissues, and organs together. Some other symptoms can be life-threatening.

32. Neurofibromatosis
Refers to several inherited conditions often causing people to develop tumors, particularly in the brain

33. Noonan Syndrome
A genetic condition that causes unusual facial characteristics, heart defects, bleeding problems, and skeletal malformations.

34. Parkinson’s Disease
Parkinson’s disease is a progressive degenerative disease of the nervous system that affects movement and cognitive ability. Symptoms include tremors, slowed movement, rigid muscles, speech impairment, impaired posture and balance.

35. Phenylketonuria
Can develop mental retardation, eczema, seizures, motor and behavioral problems including self-mutilation.

36. Prader-Willi Syndrome
Children with this syndrome usually become obese and show mental retardation. Some have severe emotional outbursts.

37. Polycystic Kidney Disease
Growth of many cysts in the kidney
No known cure

38. Parry-Romberg Syndrome
Slow degeneration of the soft tissue and skin usually on the left side of the face
Can cause seizures and facial pain

39. Sickle Cell Anemia
Sickle Cell Anemia is a condition where blood cells take a crescent shape. They block blood flow in blood vessels of limbs and organs. This can cause pain, organ damage and even infection.

40. Tay Sachs Degenerative, fatal condition of the central nervous system.
Children usually die by ages 3-4.

41. Thalassemia “Cooley’s Anemia”
Blood disorder that can cause anemia, fatigue, enlarged spleen and jaundice

42. Treacher Collins Syndrome
Condition that alters the development of bones and tissues in the face

43. Turner Syndrome Girls have one X chromosome instead of 2.
May have broad chest, webbed necks, and do not show normal sexual development

44. Usher Syndrome Hearing loss and “tunnel vision”
3-6% of children who are deaf have Usher Syndrome

45. Werner Syndrome
Normal growth through puberty then rapid aging including thinning and graying hair, diabetes, cataracts, and osteoporosis.

46. Williams Syndrome Learning and mental problems
Distinctive facial features, cardiac and connective tissue problems