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Genetic Conditions

  1. 5-Oxoprolinuria
  2. Aarskog Syndrome
  3. Aase Syndrome
  4. Abetalipoproteinemia
  5. Ablepharon-Macrostomia Syndrome
  6. Aceruloplasminemia
  7. Achondrogenesis
  8. Achondroplasia
  9. Acidemia Isovaleric
  10. Acidemia, Methylmalonic
  11. Acquired Lipodystrophy
  12. Acquired Von Willebrand's Disease
  13. Acrocallosal Syndrome, Schinzel Type
  14. Acrodermatitis Enteropathica
  15. Acromesomelic Dysplasia
  16. Acromicric Dysplasia
  17. ACTH Deficiency
  18. Adams Oliver Syndrome
  19. Adenylosuccinate Lyase Deficiency
  20. Adrenoleukodystrophy
  21. African Iron Overload
  22. Aicardi Syndrome
  23. Alkaptonuria
  24. Alopecia Areata: Psoralen With Ultraviolet A Light (PUVA) Therapy
  25. Alpha Thalassemia X-linked Intellectual Disability Syndrome
  26. Alpha-1 Antitrypsin Deficiency
  27. Alpha-1 Antitrypsin Deficiency Genetic Testing
  28. Alpha-Fetoprotein (AFP) in Blood
  29. Alport Syndrome
  30. Amniocentesis
  31. Andersen Disease (GSD IV)
  32. Androgen Insensitivity Syndrome, Partial
  33. Anemia, Blackfan Diamond
  34. Anemia, Hereditary Nonspherocytic Hemolytic
  35. Anemia, Hereditary Spherocytic Hemolytic
  36. Anemia, Megaloblastic
  37. Anemias, Sideroblastic
  38. Anesthesia: Malignant Hyperthermia Response
  39. Angelman Syndrome
  40. Aniridia
  41. Anodontia
  42. Antley Bixler Syndrome
  43. Apert Syndrome
  44. Aplasia Cutis Congenita
  45. Apolipoprotein E-4 Genetic (DNA) Test
  46. Arginase Deficiency
  47. Argininosuccinic Aciduria
  48. Arterial Tortuosity Syndrome
  49. Ashkenazi Jewish Genetic Panel (AJGP)
  50. Aspartylglycosaminuria
  51. Ataxia Telangiectasia
  52. Ataxia with Vitamin E Deficiency
  53. Ataxia, Friedreich's
  54. Atransferrinemia
  55. Atypical Hemolytic Uremic Syndrome
  56. Atypical Mole Syndrome
  57. Autosomal Dominant Hereditary Ataxia
  58. Autosomal Dominant Interstitial Kidney Disease
  59. Autosomal Dominant Polycystic Kidney Disease
  60. Autosomal Dominant Porencephaly Type I
  61. Autosomal Recessive Disease
  62. Autosomal Recessive Hyper IgE Syndrome
  63. Baller Gerold Syndrome
  64. Barakat Syndrome
  65. Bardet Biedl Syndrome
  66. Barth Syndrome
  67. Batten Disease
  68. Beals Syndrome
  69. Beckwith Wiedemann Syndrome
  70. Benign Essential Blepharospasm
  71. Bernard Soulier syndrome
  72. Best Vitelliform Macular Dystrophy
  73. Biotinidase deficiency
  74. Birth Defects Prevention (Holistic)
  75. Birth Defects Testing
  76. Birt-Hogg-Dubé Syndrome
  77. Björnstad Syndrome
  78. Blood Transfusions for Sickle Cell Disease
  79. Bloom Syndrome
  80. Blue Diaper Syndrome
  81. Blue Rubber Bleb Nevus syndrome
  82. Börjeson-Forssman-Lehman Syndrome
  83. Bowen Hutterite Syndrome
  84. Branchio Oculo Facial Syndrome
  85. Branchio Oto Renal Syndrome
  86. Breast Cancer (BRCA) Gene Test
  87. Brugada Syndrome
  88. C Syndrome
  89. CADASIL
  90. Campomelic Syndrome
  91. Camurati-Engelmann Disease
  92. Canavan Disease
  93. Cancer Genetics Overview (PDQ®): Genetics - Health Professional Information [NCI]
  94. Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI]
  95. CARASIL
  96. Carbamoyl Phosphate Synthetase I Deficiency
  97. Cardiofaciocutaneous Syndrome
  98. Carnitine Deficiency Syndrome
  99. Carnitine Palmitoyltransferase 1A Deficiency
  100. Carnosinemia
  101. Caroli Disease
  102. Carpenter Syndrome
  103. Cat Eye Syndrome
  104. Cataracts in Children
  105. Catel Manzke Syndrome
  106. Cavernous Malformation
  107. CDKL5
  108. Cell-Free Fetal DNA Test
  109. Central Core Disease
  110. Centronuclear Myopathy
  111. Cerebellar Agenesis
  112. Cerebro Oculo Facio Skeletal Syndrome
  113. Cerebrocostomandibular Syndrome
  114. Cerebrotendinous Xanthomatosis
  115. Charcot Marie Tooth Disease
  116. CHARGE Syndrome
  117. Chediak Higashi Syndrome
  118. Cholesteryl Ester Storage Disease
  119. Chorionic Villus Sampling (CVS)
  120. Choroideremia
  121. Chromosome 10, Monosomy 10p
  122. Chromosome 11, Partial Monosomy 11q
  123. Chromosome 11, Partial Trisomy 11q
  124. Chromosome 13, Partial Monosomy 13q
  125. Chromosome 14 Ring
  126. Chromosome 14, Trisomy Mosaic
  127. Chromosome 15 Ring
  128. Chromosome 15, Distal Trisomy 15q
  129. Chromosome 18 Ring
  130. Chromosome 18, Monosomy 18p
  131. Chromosome 18q- Syndrome
  132. Chromosome 21 Ring
  133. Chromosome 22 Ring
  134. Chromosome 22, Trisomy Mosaic
  135. Chromosome 3, Monosomy 3p
  136. Chromosome 3, Trisomy 3q2
  137. Chromosome 4, Monosomy 4q
  138. Chromosome 4, Monosomy Distal 4q
  139. Chromosome 4, Partial Trisomy Distal 4q
  140. Chromosome 4, Trisomy 4p
  141. Chromosome 6 Ring
  142. Chromosome 6, Partial Trisomy 6q
  143. Chromosome 7, Partial Monosomy 7p
  144. Chromosome 8, Monosomy 8p
  145. Chromosome 9 Ring
  146. Chromosome 9, Partial Monosomy 9p
  147. Chromosome 9, Tetrasomy 9p
  148. Chromosome 9, Trisomy 9p (Multiple Variants)
  149. Chromosome 9, Trisomy Mosaic
  150. Chronic Intestinal Pseudo-obstruction
  151. Cleidocranial Dysplasia
  152. Clotting Factor Replacement for Hemophilia
  153. Cockayne Syndrome
  154. Coffin Lowry Syndrome
  155. Coffin Siris Syndrome
  156. Cohen Syndrome
  157. Collagen Type VI-Related Disorders
  158. Colon Cancer Genetic Testing
  159. Color Blindness
  160. Common Variable Immune Deficiency
  161. Complications From Klinefelter Syndrome
  162. Complications of Hemophilia
  163. Cone Dystrophy
  164. Congenital Adrenal Hyperplasia
  165. Congenital Disorders of Glycosylation
  166. Congenital Fiber Type Disproportion
  167. Congenital Generalized Lipodystrophy
  168. Congenital Heart Defects
  169. Congenital Heart Defects: Pregnancy
  170. Congenital Heart Defects: Prostaglandins and Prostaglandin Inhibitors
  171. Congenital Hyperinsulinism
  172. Congenital Lactic Acidosis
  173. Congenital Muscular Dystrophy
  174. Conradi Hünermann Syndrome
  175. COPD and Alpha-1 Antitrypsin (AAT) Deficiency
  176. Corneal Dystrophies
  177. Cornelia de Lange Syndrome
  178. Craniofrontonasal Dysplasia
  179. Craniometaphyseal Dysplasia
  180. Cri du Chat Syndrome
  181. Crigler Najjar Syndrome
  182. Crouzon Syndrome
  183. Cutis Laxa
  184. Cystic Fibrosis
  185. Cystic Fibrosis
  186. Cystic Fibrosis and Exercise
  187. Cystic Fibrosis Carrier Screening
  188. Cystic Fibrosis: Getting Enough Calories and Nutrients
  189. Cystic Fibrosis: Helping Your Child Cough Up Mucus
  190. Cystic Fibrosis: Ways to Clear the Airways
  191. Cystinosis
  192. Cystinuria
  193. Cytochrome C Oxidase Deficiency
  194. Danon Disease
  195. De Barsy Syndrome
  196. Dejerine Sottas Disease
  197. Dent Disease
  198. Dentin Dysplasia Type I
  199. Dentinogenesis Imperfecta Type III
  200. Disaccharide Intolerance I
  201. Distal Myopathy
  202. DNA Fingerprinting
  203. Down Syndrome
  204. Down Syndrome
  205. Down Syndrome, Ages 1 Month to 1 Year
  206. Down Syndrome, Ages 1 to 5
  207. Down Syndrome, Ages 13 to 21
  208. Down Syndrome, Ages 5 to 13
  209. Down Syndrome, Ages Birth to 1 Month
  210. Down Syndrome: Grooming and Hygiene
  211. Down Syndrome: Helping Your Child Avoid Social Problems
  212. Down Syndrome: Helping Your Child Dress Independently
  213. Down Syndrome: Helping Your Child Eat Independently
  214. Down Syndrome: Helping Your Child Learn to Communicate
  215. Down Syndrome: Helping Your Child Learn to Walk and Use Other Motor Skills
  216. Down Syndrome: Training and Therapy for Young People
  217. Dravet Syndrome Spectrum
  218. Dubin Johnson Syndrome
  219. Dubowitz Syndrome
  220. Duchenne Muscular Dystrophy
  221. Dupuytren's Disease: Surgery Complications
  222. Dyggve Melchior Clausen syndrome
  223. Dyschondrosteosis
  224. Dyskeratosis Congenita
  225. Dystrophy, Asphyxiating Thoracic
  226. Dystrophy, Myotonic
  227. Ear, Patella, Short Stature Syndrome
  228. Ectodermal Dysplasias
  229. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
  230. Ehlers Danlos Syndrome
  231. Ellis Van Creveld Syndrome
  232. Emery Dreifuss Muscular Dystrophy
  233. Endocardial Fibroelastosis
  234. Enzyme Replacement Therapy for Cystic Fibrosis
  235. Epidermolysis Bullosa
  236. Epidermolytic Ichthyosis
  237. Erythrokeratodermia with Ataxia
  238. Erythropoietic Protoporphyria
  239. Esophageal Atresia and/or Tracheoesophageal Fistula
  240. Fabry Disease
  241. Factor VII Deficiency
  242. Factor XI Deficiency
  243. Familial Adenomatous Polyposis
  244. Familial Cold Autoinflammatory Syndrome
  245. Familial Encephalopathy with Neuroserpin Inclusion Bodies
  246. Familial Hypercholesterolemia
  247. Familial Hypophosphatemia
  248. Familial Idiopathic Basal Ganglia Calcification
  249. Familial Isolated Hypoparathyroidism
  250. Familial Lipid Disorders
  251. Familial Lipoprotein Lipase Deficiency
  252. Familial Mediterranean Fever
  253. Familial Partial Lipodystrophy
  254. Family History and the Risk for Breast or Ovarian Cancer
  255. Family History of Epilepsy
  256. Family History of Heart Disease
  257. Fanconi Anemia
  258. Farber's Disease
  259. Ferroportin Disease
  260. Fetal Retinoid Syndrome
  261. FG Syndrome Type 1
  262. Fibrodysplasia Ossificans Progressiva (FOP)
  263. First-Trimester Screening for Birth Defects
  264. Focal Dermal Hypoplasia
  265. Forbes Disease
  266. Fountain Syndrome
  267. Fragile X Syndrome
  268. Fraser Syndrome
  269. Freeman Sheldon Syndrome
  270. Frontofacionasal Dysplasia
  271. Frontonasal Dysplasia
  272. Fructose Intolerance, Hereditary
  273. Fructosuria
  274. Fukuyama Type Congenital Muscular Dystrophy
  275. Galactosemia
  276. Galactosemia Test
  277. Galloway-Mowat Syndrome
  278. Gaucher Disease
  279. Genetic Test
  280. Genetic Test for Clopidogrel
  281. Genetic Testing: Ethical, Legal, and Religious Issues
  282. Genetics
  283. Genetics of Prostate Cancer (PDQ®): Genetics - Health Professional Information [NCI]
  284. Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI]
  285. Giant Axonal Neuropathy
  286. Giant Congenital Melanocytic Nevus
  287. Gilbert syndrome
  288. Glanzmann Thrombasthenia
  289. Glucose Transporter Type 1 Deficiency Syndrome
  290. Glucose-6-Phosphate Dehydrogenase Deficiency
  291. Glucose-Galactose Malabsorption
  292. Glutaricaciduria I
  293. Glutaricaciduria II
  294. Glycogen Storage Disease Type I
  295. Glycogen Storage Disease Type V
  296. Glycogen Storage Disease Type VII
  297. Goodman Syndrome
  298. Gordon Syndrome
  299. Gorlin-Chaudhry-Moss Syndrome
  300. Gottron Syndrome
  301. Greig Cephalopolysyndactyly Syndrome
  302. Growth Hormone Insensitivity
  303. Hailey-Hailey Disease
  304. Haim-Munk Syndrome
  305. Hair Loss
  306. Hair Loss: Should I Take Medicine to Regrow Hair?
  307. Hajdu Cheney Syndrome
  308. Hartnup Disease
  309. Hay-Wells Syndrome
  310. Hematuria, Benign, Familial
  311. Hemochromatosis
  312. Hemochromatosis Gene Test (HFE Test)
  313. Hemochromatosis Genetic Screening
  314. Hemophilia
  315. Hemophilia: Preventing Bleeding Episodes
  316. Hemophilia: Treatment for People Who Have Inhibitors
  317. Hemophilia: Understanding Genetic Risk
  318. Hepatic Fibrosis, Congenital
  319. Hepatoerythropoietic Porphyria
  320. Hereditary Hyperphosphatasia
  321. Hereditary Lymphedema
  322. Hereditary Multiple Osteochondromas
  323. Hereditary Neuralgic Amyotrophy
  324. Hereditary Sensory and Autonomic Neuropathy Type II
  325. Hereditary Sensory and Autonomic Neuropathy Type IV
  326. Hereditary Sensory Neuropathy Type I
  327. Hereditary Spastic Paraplegia
  328. Hermansky Pudlak syndrome
  329. Hers Disease
  330. Hirschsprung's Disease
  331. Histidinemia
  332. Homocystinuria
  333. Homocystinuria due to Cystathionine Beta-Synthase Deficiency
  334. Hormone Inhibin A
  1. How Cystic Fibrosis Affects Breathing and the Lungs
  2. How Cystic Fibrosis Affects Digestion and the Pancreas
  3. How Cystic Fibrosis Affects the Bones
  4. How Cystic Fibrosis Affects the Reproductive System
  5. How Cystic Fibrosis Affects the Sweat Glands
  6. Human Chorionic Gonadotropin (HCG)
  7. Human HOXA1 Syndromes
  8. Hunter Syndrome
  9. Huntington's Disease
  10. Huntington's Disease Genetic Test
  11. Hyper IgD syndrome
  12. Hyper IgM Syndrome
  13. Hyperekplexia
  14. Hyperferritinemia Cataract Syndrome
  15. Hyperlipoproteinemia Type III
  16. Hyperoxaluria, Primary (Type I)
  17. Hyperprolinemia Type I
  18. Hyperprolinemia Type II
  19. Hyperthyroidism
  20. Hypertrophic Cardiomyopathy
  21. Hypertrophic Cardiomyopathy Types
  22. Hypochondroplasia
  23. Hypohidrotic Ectodermal Dysplasia
  24. Hypothalamic Hamartoma
  25. I Cell Disease
  26. Ichthyosis
  27. Ichthyosis Hystrix, Curth Macklin Type
  28. Ichthyosis Vulgaris
  29. Ichthyosis, Chanarin Dorfman Syndrome
  30. Ichthyosis, CHILD Syndrome
  31. Ichthyosis, Erythrokeratodermia Variabilis
  32. Ichthyosis, Erythrokeratolysis Hiemalis
  33. Ichthyosis, Harlequin Type
  34. Ichthyosis, Lamellar
  35. Ichthyosis, Netherton Syndrome
  36. Ichthyosis, Sjögren Larsson Syndrome
  37. Ichthyosis, Trichothiodystrophy
  38. Ichthyosis, X Linked
  39. Incontinentia Pigmenti
  40. Independent Living for People With Disabilities
  41. Inherited Blood-Clotting Problems
  42. IRF6-Related Disorders
  43. Jackson-Weiss Syndrome
  44. Jarcho-Levin Syndrome
  45. Jejunal Atresia
  46. Jervell and Lange-Nielsen Syndrome
  47. Johanson-Blizzard Syndrome
  48. Joubert Syndrome
  49. Juberg-Marsidi Syndrome
  50. Kabuki Syndrome
  51. Kallmann Syndrome
  52. Karyotype Test
  53. KBG Syndrome
  54. Kennedy Disease
  55. Kenny-Caffey Syndrome
  56. Keratitis Ichthyosis Deafness Syndrome
  57. Klinefelter Syndrome
  58. Klippel-Trénaunay Syndrome
  59. Kniest Dysplasia
  60. Kufs Disease
  61. Kugelberg Welander Syndrome
  62. L1 Syndrome
  63. Laband Syndrome
  64. LADD syndrome
  65. Leber Congenital Amaurosis
  66. Leber Hereditary Optic Neuropathy
  67. Leigh Syndrome
  68. Leiomyosarcoma
  69. Lenz Microphthalmia Syndrome
  70. LEOPARD Syndrome
  71. Leri Pleonosteosis
  72. Lesch Nyhan Syndrome
  73. Leukodystrophy
  74. Leukodystrophy, Metachromatic
  75. Levels of Evidence for Cancer Genetics Studies (PDQ®): Genetics - Health Professional Information [NCI]
  76. Levy-Yeboa Syndrome
  77. Limb-Girdle Muscular Dystrophies
  78. Lissencephaly
  79. Løken Senior Syndrome
  80. Lung Transplant for Cystic Fibrosis
  81. Lymphedema-Distichiasis Syndrome
  82. Lynch Syndrome
  83. Lysosomal Free Sialic Acid Storage Disorders
  84. Lysosomal Storage Disorders
  85. Machado-Joseph Disease
  86. Malignant Hyperthermia
  87. Mandibuloacral Dysplasia
  88. Maple Syrup Urine Disease
  89. Marden Walker Syndrome
  90. Marfan Syndrome
  91. Maroteaux Lamy Syndrome
  92. Marshall Syndrome
  93. Maternally Inherited Leigh Syndrome and NARP Syndrome
  94. Maxillofacial Dysostosis
  95. May Hegglin Anomaly
  96. McCune Albright Syndrome
  97. McKusick Type Metaphyseal Chondrodysplasia
  98. MCT8-specific thyroid hormone cell transporter deficiency
  99. MDR3 Deficiency
  100. MECP2 Duplication Syndrome
  101. Medium Chain Acyl CoA Dehydrogenase Deficiency
  102. Megalencephaly-Capillary Malformation
  103. Megalocornea Mental Retardation Syndrome
  104. Meleda Disease
  105. Melnick Needles Syndrome
  106. Melorheostosis
  107. Menkes Disease
  108. Menkes’ Disease (Holistic)
  109. Metatropic Dysplasia I
  110. Miller Syndrome
  111. Mitochondrial Neurogastrointestinal Encephalopathy
  112. Monilethrix
  113. Morquio Syndrome
  114. Mowat-Wilson Syndrome
  115. Muckle-Wells Syndrome
  116. Mucolipidosis IV
  117. Mucopolysaccharidoses
  118. Mucopolysaccharidosis Type I
  119. Mucopolysaccharidosis Type III
  120. Mulibrey Nanism
  121. Multiple Endocrine Neoplasia Type 1
  122. Multiple Endocrine Neoplasia Type 2
  123. Multiple Epiphyseal Dysplasia
  124. Multiple Pregnancy: Genetic Disorders and Birth Defects
  125. Multiple Sulfatase Deficiency
  126. Mulvihill Smith Syndrome
  127. Muscular Dystrophy, Becker
  128. Myhre Syndrome
  129. Myopathy, Congenital, Batten Turner Type
  130. Myopathy, Myofibrillar
  131. Myopathy, Scapuloperoneal
  132. Myotonia Congenita
  133. N-Acetylglutamate Synthetase Deficiency
  134. Nail Patella Syndrome
  135. Nance-Horan Syndrome
  136. Nasal Potential Difference Test for Cystic Fibrosis
  137. Needle Aponeurotomy for Dupuytren's Disease
  138. Nemaline Myopathy
  139. Neonatal Hemochromatosis
  140. Neonatal-onset Multisystem Inflammatory Disease
  141. Nephrogenic Diabetes Insipidus
  142. Neu Laxova Syndrome
  143. Neuroacanthocytosis
  144. Neurofibromatosis Type 1 (NF1)
  145. Neurofibromatosis Type 2 (NF2)
  146. Nevoid Basal Cell Carcinoma Syndrome
  147. Nonketotic Hyperglycinemia
  148. Noonan Syndrome
  149. Norrie Disease
  150. Nuchal Translucency Screening Test
  151. Ocular Albinism
  152. Oculocerebral Syndrome with Hypopigmentation
  153. Oculocerebrocutaneous Syndrome
  154. Oculo-Dento-Digital Dysplasia
  155. Oculopharyngeal Muscular Dystrophy
  156. Olivopontocerebellar Atrophy
  157. Oral-Facial-Digital Syndrome
  158. Ornithine Transcarbamylase Deficiency
  159. Orocraniodigital Syndrome
  160. OSMED, Homozygous
  161. Osteopetrosis
  162. Otopalatodigital Syndrome Type I and II
  163. Ovotesticular Disorder of Sex Development
  164. Pachydermoperiostosis
  165. Pachyonychia Congenita
  166. Pain Management
  167. Pallister Hall Syndrome
  168. Pallister Killian Mosaic Syndrome
  169. Pallister W Syndrome
  170. Pantothenate Kinase-Associated Neurodegeneration
  171. Papillon Lefèvre Syndrome
  172. Paramyotonia Congenita
  173. Peeling Skin Syndrome
  174. Pelizaeus Merzbacher disease
  175. Penta X Syndrome
  176. Pentalogy of Cantrell
  177. PEPCK Deficiency
  178. Peutz Jeghers Syndrome
  179. Pfeiffer Syndrome
  180. Phelan-McDermid Syndrome
  181. Phenylketonuria
  182. Phenylketonuria (Holistic)
  183. Phenylketonuria (PKU)
  184. Phenylketonuria (PKU) Test
  185. Phocomelia Syndrome
  186. Phosphoglycerate Kinase Deficiency
  187. PKU Diet
  188. PMM2-CDG
  189. POEMS Syndrome
  190. Polycystic Kidney Disease, Autosomal Recessive
  191. Polycystic Liver Disease
  192. Polycystic Ovary Syndrome (PCOS)
  193. Polycythemia Vera
  194. Pompe Disease
  195. Porphyria Cutanea Tarda
  196. Porphyria, Acute Intermittent
  197. Porphyria, ALA-D
  198. Porphyria, Hereditary Coproporphyria
  199. Pregnancy: Should I Have Amniocentesis?
  200. Pregnancy: Should I Have CVS (Chorionic Villus Sampling)?
  201. Pregnancy: Should I Have Screening Tests for Birth Defects?
  202. Primary Ciliary Dyskinesia
  203. Progressive Symmetric Erythrokeratodermia
  204. Pseudo Hurler Polydystrophy
  205. Pseudoachondroplastic Dysplasia
  206. Pseudocholinesterase Deficiency
  207. Pseudohypoparathyroidism
  208. Pseudoxanthoma Elasticum (PXE)
  209. PTEN Hamartoma Tumor Syndrome
  210. Pyknodysostosis
  211. Pyruvate Carboxylase Deficiency
  212. Pyruvate Kinase Deficiency
  213. Rabson-Mendenhall Syndrome
  214. Radiation Sickness
  215. Rapp Hodgkin Syndrome
  216. Reducing Cancer Risk When You Are BRCA-Positive
  217. Refsum Disease
  218. Replacement Therapy for Von Willebrand's Disease
  219. Rieger Syndrome
  220. Ring Chromosome 4
  221. Roberts Syndrome
  222. Robinow Syndrome
  223. Romano Ward Syndrome
  224. Rosenberg Chutorian Syndrome
  225. Rothmund Thomson Syndrome
  226. Roussy Lévy Syndrome
  227. Rubinstein Taybi Syndrome
  228. Russell Silver Syndrome (RSS)
  229. Ruvalcaba Syndrome
  230. Saethre Chotzen Syndrome
  231. Sakati Syndrome
  232. Santavuori Disease
  233. Schimke Immuno-osseous Dysplasia
  234. Schimmelpenning Syndrome
  235. Schindler disease
  236. Schinzel Syndrome
  237. Schwartz Jampel Syndrome
  238. Scott Craniodigital Syndrome
  239. Seckel Syndrome
  240. Segawa Syndrome
  241. Setleis Syndrome
  242. Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
  243. SHORT Syndrome
  244. Shwachman Diamond Syndrome
  245. Sickle Cell Crisis
  246. Sickle Cell Disease
  247. Sickle Cell Disease: Acute Chest Syndrome
  248. Sickle Cell Disease: Aplastic Crisis
  249. Sickle Cell Disease: Dactylitis (Hand-Foot Syndrome)
  250. Sickle Cell Disease: Home Treatment for Priapism
  251. Sickle Cell Disease: Pain Management
  252. Sickle Cell Disease: Preventing Problems and Staying Healthy
  253. Sickle Cell Disease: Splenic Sequestration
  254. Sickle Cell Disease: Vision Problems
  255. Sickle Cell Disorders
  256. Sickle Cell Test
  257. Sickle Cell Trait
  258. Simpson Dysmorphia Syndrome
  259. Sly Syndrome
  260. Smith Lemli Opitz Syndrome
  261. Smith Magenis Syndrome
  262. Sotos Syndrome
  263. Spinal Muscular Atrophy
  264. Spinocerebellar Ataxia with Axonal Neuropathy
  265. Spondyloepiphyseal Dysplasia Tarda
  266. Spondyloepiphyseal Dysplasia, Congenital
  267. Stem Cell Transplant for Sickle Cell Disease
  268. Sturge Weber Syndrome
  269. Stuve-Wiedemann Syndrome
  270. Succinic Semialdehyde Dehydrogenase Deficiency
  271. Summitt Syndrome
  272. Sweat Test
  273. Swyer syndrome
  274. Tangier Disease
  275. Tay Sachs Disease
  276. Tay-Sachs Disease
  277. Tay-Sachs Test
  278. Tetrahydrobiopterin Deficiency
  279. Thalassemia
  280. Thalassemia Major
  281. Three M Syndrome
  282. Thrombocytopenia Absent Radius Syndrome
  283. Timothy Syndrome
  284. Tongue-Tie
  285. Tooth and Nail Syndrome
  286. Tourette's Disorder
  287. Townes Brocks Syndrome
  288. Treacher Collins Syndrome
  289. Tricho Dento Osseous Syndrome
  290. Trichorhinophalangeal Syndrome Type II
  291. Trichorhinophalangeal Syndrome Type III
  292. Trimethylaminuria
  293. Triosephosphate Isomerase Deficiency
  294. Triple or Quad Screening for Birth Defects
  295. Triploid Syndrome
  296. Trisomy 13 Syndrome
  297. Trisomy 18 Syndrome
  298. Trisomy X
  299. Tuberous Sclerosis
  300. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
  301. Turcot Syndrome
  302. Turner Syndrome
  303. Types of Hair Loss
  304. Tyrosine Hydroxylase Deficiency
  305. Usher Syndrome
  306. Valinemia
  307. Variegate Porphyria
  308. Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
  309. Von Hippel-Lindau Syndrome
  310. Von Willebrand Disease
  311. Von Willebrand's Disease
  312. Waardenburg Syndrome
  313. WAGR Syndrome/11p Deletion Syndrome
  314. Walker Warburg Syndrome
  315. WAS Related Disorders
  316. Weill Marchesani syndrome
  317. Werner Syndrome
  318. Wieacker Syndrome
  319. Wiedemann Rautenstrauch Syndrome
  320. Wildervanck Syndrome
  321. Williams Syndrome
  322. Wilson’s Disease (Holistic)
  323. Wilson's Disease
  324. WNT4 Deficiency
  325. Wolf Hirschhorn Syndrome
  326. Wolff-Parkinson-White Syndrome
  327. X linked Juvenile Retinoschisis
  328. Xeroderma Pigmentosum
  329. X-Linked Myopathy with Excessive Autophagy
  330. X-Linked Myotubular Myopathy
  331. X-linked Opitz G/BBB syndrome
  332. X-Linked Protoporphyria
  333. XYY Syndrome
  334. Zellweger Spectrum Disorders

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