These numbers should reasonably reflect the relative prevalences of diagnoses among children in primary care practices, though they are based on studies that vary in design and populations and may involve assumptions about patient age distributions [Bocian: 1999]. Some listed conditions may not be considered medical diagnoses. Click Feedback for questions or to suggest better prevalence studies.
| Sort by Diagnosis | Sort by Prevalence | Patients in your practice | Citation |
|---|---|---|---|
| ≥1 Mental, Emotional, Behavioral Disorder | 1/6 | 417 | [O'Connell: 2009] |
| XXY (Klinefelter) Syndrome | 1/1,000 | 2 | [Morris: 2008] |
| Wilms Tumor | 1/172,414 | 0.01 | [U.S.: 2005] |
| VLCADD | 1/63,481 | 0.04 | [Therrell: 2014] |
| Visual Impairment (worse than 20/70) | 1/935 | 3 | [Mervis: 2002] |
| Ventricular Septal Defect | 1/593 | 4 | [Bernstein: 2004] |
| Tyrosinemia Type 1 | 1/120,000 | 0.02 | [Scriver: 2001] |
| Turner Syndrome (1/2000 females) | 1/4,000 | 0.6 | [Stochholm: 2006] |
| Tuberous Sclerosis | 1/20,000 | 0.1 | [Northrup: 2013] |
| Truncus Arteriosus | 1/13,876 | 0.2 | [Parker: 2010] |
| Trisomy 18 | 1/3,762 | 0.7 | [Parker: 2010] |
| Trisomy 13 | 1/7,906 | 0.3 | [Parker: 2010] |
| Traumatic Brain Injury with Persistent Disability | 1/3,190 | 0.8 | [Zaloshnja: 2008] |
| Transgender Adolescents (0.73% of 13-17 year olds) | 1/978 | 3 | [Herman: 2017] |
| Transgender (prevalence in US adults) | 1/167 | 15 | [Flores: 2016] |
| Tourette Syndrome | 1/200 | 12 | [Scharf: 2015] |
| Total Anomalous Pulmonary Venous Return | 1/10,867 | 0.2 | [Bernstein: 2004] |
| TFP Deficiency | 1/1,822,568 | 0.001 | [Therrell: 2014] |
| Tetralogy of Fallot | 1/1,657 | 2 | [Parker: 2010] |
| Substance Use Needing Treatment (12-17 yrs.) | 1/100 | 25 | [Han: 2015] |
| Stroke (>6/100,000/yr. x 16 yr.) | 1/1,042 | 2 | [Roach: 2000] |
| Spinal Muscular Atrophy (SMA) | 1/50,000 | 0.05 | [Verhaart: 2017] |
| Spinal Cord Injury | 1/2,861 | 0.9 | [National: 2005] |
| Speech Defects | 1/38 | 66 | [Newacheck: 1992] |
| Single Ventricle | 1/10,867 | 0.2 | [Bernstein: 2004] |
| Sickle Cell Disease (national estimate) | 1/2,699 | 0.9 | [Hassell: 2010] |
| Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) | 1/83,300 | 0.03 | [Schulze: 2003] |
| Seizure Disorder | 1/256 | 10 | [Hirtz: 2007] |
| Romano-Ward Syndrome | 1/10,000 | 0.3 | [Ackerman: 1998] |
| Rheumatic Heart Disease | 1/2,000 | 1 | [Chin: 2006] |
| Rett Syndrome | 1/11,364 | 0.2 | [Laurvick: 2006] |
| Retinoblastoma | 1/16,667 | 0.1 | [Seregard: 2004] |
| Reduction Defects, upper limbs | 1/2,869 | 0.9 | [Parker: 2010] |
| Reduction Defects, lower limbs | 1/5,949 | 0.4 | [Parker: 2010] |
| Rectal & Large Intestinal Atresia/Stenosis | 1/2,138 | 1 | [Parker: 2010] |
| Pulmonary Valve Stenosis | 1/2,717 | 0.9 | [Bernstein: 2004] |
| Propionic Acidemia | 1/238,346 | 0.01 | [Therrell: 2014] |
| Primary Ciliary Dyskinesia (immotile cilia) | 1/15,000 | 0.2 | [Knowles: 2013] |
| Premature Infant (<27 weeks) | 1/151 | 17 | [National: 2020] |
| Prader-Willi Syndrome | 1/25,000 | 0.1 | [Butler: 1990] |
| Postural Orthostatic Tachycardia Syndrome (POTS; 1% of adolescents) | 1/568 | 4 | [Bhatia: 2016] |
| Polycystic Kidney Disease, autsomal recessive | 1/20,000 | 0.1 | [Zerres: 1998] |
| Phenylketonuria (PKU) | 1/16,500 | 0.2 | [Therrell: 2014] |
| Patent Ductus Arteriosus | 1/2,329 | 1 | [Bernstein: 2004] |
| Osteogenesis Imperfecta | 1/7,500 | 0.3 | [Jorde: 2010] |
| Organic Acidurias - total | 1/14,700 | 0.2 | [Schulze: 2003] |
| Omphalocele | 1/5,386 | 0.5 | [Parker: 2010] |
| Obsessive-Compulsive Disorder (OCD), 11-21 yrs. | 1/183 | 14 | |
| Non-Hodgkin Lymphoma | 1/90,909 | 0.03 | [U.S.: 2005] |
| Neurofibromatosis, Type I | 1/4,000 | 0.6 | [Jorde: 2010] |
| Neuroblastoma | 1/131,579 | 0.02 | [U.S.: 2005] |
| Neural Tube Defects | 1/760 | 3 | [Utah: 2000] |
| Myotonic Muscular Dystrophy | 1/50,000 | 0.05 | [Theadom: 2014] |
| Myasthenia Gravis | 1/500,000 | 0.005 | |
| Multiple Sclerosis | 1/25,000 | 0.1 | [Marrie: 2018] |
| Mucopolysaccharidosis Type I (Hurler syndrome) | 1/100,000 | 0.03 | [Moore: 2008] |
| Methylmalonic Acidemia | 1/75,000 | 0.03 | [Chace: 2001] |
| MCADD | 1/17,759 | 0.1 | [Therrell: 2014] |
| Marfan Syndrome | 1/15,000 | 0.2 | [Jorde: 2010] |
| Maple Syrup Urine Disease | 1/197,714 | 0.01 | [Therrell: 2014] |
| LGBT (adults, US) | 1/24 | 104 | [Gates: 2017] |
| Leukodystrophies | 1/7,663 | 0.3 | [Bonkowsky: 2010] |
| Lennox-Gastaut Syndrome | 1/3,850 | 0.6 | [Trevathan: 1997] |
| LCHAD Deficiency | 1/363,738 | 0.007 | [Therrell: 2014] |
| Juvenile Arthritis | 1/1,000 | 2 | [von: 2001] |
| Isovaleric Acidemia | 1/250,000 | 0.01 | [Ensenauer: 2004] |
| Intellectual Disability | 1/100 | 25 | [American: 2013] |
| Inflammatory Bowel Disease | 1/1,408 | 2 | [Kappelman: 2007] |
| Infantile Spasms, history of (1/5,000 under 10 yrs.) | 1/6,868 | 0.4 | [Mackay: 2004] |
| In Foster Care (national estimate) | 1/202 | 12 | [Child: 2013] |
| Idiopathic Thrombocytopenic Purpura (cum. incidence) | 1/1,070 | 2 | [Chu: 2000] |
| Hypoplastic Right Ventricle | 1/8,150 | 0.3 | [Bernstein: 2004] |
| Hypoplastic Left Heart Syndrome | 1/4,344 | 0.6 | [Parker: 2010] |
| Hypertension | 1/22 | 114 | [Sorof: 2004] |
| Hydrocephalus | 1/1,220 | 2 | [Persson: 2005] |
| Huntington Disease | 1/20,000 | 0.1 | [Jorde: 2010] |
| Homocystinuria | 1/300,000 | 0.008 | [Shinawi: 2007] |
| Hodgkin Lymphoma | 1/83,333 | 0.03 | [U.S.: 2005] |
| Hirschsprung Disease | 1/5,100 | 0.5 | [Passarge: 2002] |
| Hemophilia B | 1/67,413 | 0.04 | [Soucie: 1998] |
| Hemophilia A | 1/18,619 | 0.1 | [Soucie: 1998] |
| Hemophilia (A & B) | 1/14,588 | 0.2 | [Soucie: 1998] |
| Hearing Loss, Serious (>40 db, bilat.) | 1/935 | 3 | [Mervis: 2002] |
| Hearing Loss or Deafness, Congenital | 1/909 | 3 | [Mehra: 2009] |
| Hearing Loss | 1/333 | 8 | [Finitzo: 1998] |
| Headache, Migraine | 1/13 | 192 | [Lewis,: 2002] |
| Headache, Chronic Daily | 1/100 | 25 | [Lipton: 2011] |
| Guanidinoacetate Methyltransferase (GAMT) | 1/114,000 | 0.02 | [Mercimek-Andrews: 2015] |
| Growth Hormone Deficiency | 1/3,480 | 0.7 | [Lindsay: 1994] |
| Glycogen Metabolism/Storage Diseases | 1/20,000 | 0.1 | |
| Gastroschisis | 1/2,229 | 1 | [Parker: 2010] |
| Galactosemia (GALT deficiency) | 1/48,000 | 0.05 | [Therrell: 2015] |
| Galactosemia (GALK deficiency) | 1/100,000 | 0.03 | [Berry: 2021] |
| Friedreich's Ataxia | 1/50,000 | 0.05 | [Durr: 1996] |
| Fragile X Syndrome | 1/5,161 | 0.5 | [Coffee: 2009] |
| Food Allergy | 1/27 | 93 | [Branum: 2009] |
| Fetal Alcohol Spectrum Disorders | 1/200 | 12 | [National: 2017] |
| Fatty Acid Oxidation Disorders - total | 1/10,400 | 0.2 | [Schulze: 2003] |
| Familial Hypercholesterolemia (homozygote) | 1/1,000,000 | 0.003 | |
| Familial Hypercholesterolemia (heterozygote) | 1/500 | 5 | [Jorde: 2010] |
| Fabry Disease | 1/50,000 | 0.05 | [National: 2022] |
| Esophageal/Tracheoesophageal Atresia | 1/4,608 | 0.5 | [Parker: 2010] |
| Eosinophilic Esophagitis | 1/847 | 3 | [Robson: 2019] |
| Duchenne Muscular Dystrophy | 1/7,000 | 0.4 | [Jorde: 2010] |
| Down Syndrome | 1/884 | 3 | [de: 2017] |
| Dilated Cardiomyopathy (0.57/100,000/yr.) | 1/17,268 | 0.1 | [Towbin: 2006] |
| Diaphragmatic Hernia | 1/3,836 | 0.7 | [Parker: 2010] |
| Diabetes Mellitus, Type I, in children | 1/588 | 4 | [Diabetes: 2005] |
| Depression | 1/20 | 125 | [Birmaher: 2007] |
| Deafness | 1/10,000 | 0.3 | [Marazita: 1993] |
| d-Transposition of the Great Arteries | 1/3,333 | 0.8 | [Parker: 2010] |
| Cystic Fibrosis | 1/3,500 | 0.7 | [Comeau: 2004] |
| Crohn's Disease | 1/2,193 | 1 | [Kugathasan: 2003] |
| Cornelia de Lange Syndrome | 1/50,000 | 0.05 | [Barisic: 2008] |
| Constipation | 1/8 | 312 | [Mugie: 2011] |
| Congenital Hypothyroidism | 1/2,174 | 1 | [Maniatis: 2006] |
| Congenital Heart Defects, all | 1/110 | 23 | [Hugh: 2016] |
| Congenital Adrenal Hyperplasia | 1/15,000 | 0.2 | [Pang: 1997] |
| Coarctation of the Aorta | 1/2,717 | 0.9 | [Bernstein: 2004] |
| Club Foot | 1/1,000 | 2 | [Jorde: 2010] |
| Cleft palate, without cleft lip | 1/1,574 | 2 | [Parker: 2010] |
| Cleft Lip, with or without cleft palate | 1/940 | 3 | [Parker: 2010] |
| Chronic Renal Failure | 1/13,387 | 0.2 | [Ardissino: 2003] |
| Chronic Granulomatous Disease | 1/500,000 | 0.005 | |
| Childhood Obesity | 1/5 | 500 | [Robert: 2014] |
| Childhood Absence Epilepsy | 1/3,571 | 0.7 | [Posner: 2008] |
| Charcot-Marie-Tooth Disease | 1/6,369 | 0.4 | [Theadom: 2019] |
| Cerebral Palsy | 1/474 | 5 | [Oskoui: 2013] |
| Celiac Disease (all ages) | 1/133 | 19 | [Fasano: 2003] |
| Cancer, kidney & renal pelvis | 1/166,667 | 0.01 | [U.S.: 2005] |
| Cancer, brain & CNS | 1/34,483 | 0.07 | [U.S.: 2005] |
| Cancer, bone & joint | 1/111,111 | 0.02 | [U.S.: 2005] |
| Cancer (all types, includes survivors) | 1/725 | 3 | [Hewitt: 2003] |
| Biotinidase Deficiency, profound | 1/67,766 | 0.04 | [Therrell: 2014] |
| Biotinidase Deficiency, partial | 1/24,957 | 0.1 | [Therrell: 2014] |
| Behçet's Disease | 1/263,158 | 0.009 | [Sakane: 1999] |
| Autism Spectrum Disorder | 1/54 | 46 | [Maenner: 2020] |
| Attention Deficit Hyperactivity Disorder (9.4% of 2-17 year olds) | 1/12 | 208 | [Division: 2018] |
| Atrial Septal Defect | 1/2,329 | 1 | [Bernstein: 2004] |
| Ataxia-Telangiectasia | 1/20,000 | 0.1 | [Rothblum-Oviatt: 2016] |
| Asthma (Pediatric) | 1/12 | 208 | [National: 2017] |
| Argininosuccinic Aciduria | 1/300,000 | 0.008 | [Therrell: 2014] |
| Arginase Deficiency | 1/2,000,000 | 0.001 | [Nagata: 1991] |
| Aortic Valve Stenosis | 1/3,622 | 0.7 | [Bernstein: 2004] |
| Anxiety Disorder (cumulative by age 16; adj.) | 1/14 | 179 | [Ghandour: 2019] |
| Anophthalmia/Microphthalmia | 1/5,349 | 0.5 | [Parker: 2010] |
| Angelman Syndrome | 1/16,000 | 0.2 | [Kyllerman: 2013] |
| Amino Acid Disorders - total | 1/3,800 | 0.7 | [Schulze: 2003] |
| All Tandem Mass-Screened Conditions | 1/2,400 | 1 | [Schulze: 2003] |
| Acute Myeloid Leukemia (AML) | 1/142,857 | 0.02 | [U.S.: 2005] |
| Acute Lymphoblastic Leukemia (ALL) | 1/33,333 | 0.08 | [U.S.: 2005] |
| 22q11.2 Deletion Syndrome | 1/4,000 | 0.6 | [McDonald-McGinn: 2011] |