16 Type 1 Diabetes Abnormally high blood sugar levels Occurs at any age Not usually caused by lifestyle
17 Down SyndromeDown 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 weaknessusually affected children are confined to wheelchairs by age 12
19 Edwards SyndromeHalf 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 DiseaseLack 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 HemophiliaA 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 nervecells in the brain. This hasa large impact on a person’s ability to move, thinking and psychiatric disorders. Mostpeople develop signs in their 30s or 40s.
29 Males who have XXY sex chromosomes Kleinfelter SyndromeMales who have XXY sex chromosomes
30 Leigh’s DiseaseMitochondrial (metabolic) problem affects central nervous systemMost children die before age 7, though some survive to 17
31 Marfan SyndromeA 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 NeurofibromatosisRefers to several inherited conditions often causing people to develop tumors, particularly in the brain
33 Noonan SyndromeA genetic condition that causes unusual facial characteristics, heart defects, bleeding problems, and skeletal malformations.
34 Parkinson’s DiseaseParkinson’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 PhenylketonuriaCan 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 kidneyNo known cure
38 Parry-Romberg Syndrome Slow degeneration of the soft tissue and skin usually on the left side of the faceCan cause seizures and facial pain
39 Sickle Cell AnemiaSickle 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 SyndromeNormal 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