Diagnosis Prevalence List

Though these numbers are based on studies that vary in design and populations and may involve assumptions about patient age distributions, they should reasonably reflect relative prevalences among children in primary care practices. Some listed conditions may not be considered medical diagnoses. Click Feedback for questions or to suggest better prevalence studies.

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≥1 Mental, Emotional, Behavioral Disorder 1/6 417 [O'Connell: 2009]
Childhood Obesity 1/6 417 [Ogden: 2012]
Constipation 1/8 312 [Mugie: 2011]
Asthma (Pediatric) 1/12 208 [National: 2016]
Headache, Migraine 1/13 192 [Lewis,: 2002]
Substance Use Disorders 1/13 192 [Han: 2015]
Depression 1/20 125 [Birmaher: 2007]
Hypertension 1/22 114 [Sorof: 2004]
Attention Deficit Hyperactivity Disorder (1/11.5 of 8-15 year olds) 1/23 109 [Froehlich: 2007]
LGBT (adults, US) 1/24 104 [Gates: 2017]
Food Allergy 1/27 93 [Branum: 2009]
Anxiety Disorder (cumulative by age 16; adj.) 1/30 83 [Costello: 2003]
Speech Defects 1/38 66 [Newacheck: 1992]
Autism Spectrum Disorder 1/60 42 [Baio: 2018]
Premature Infant (<27 weeks) 1/100 25 [McCormick: 2011]
Tourette Syndrome 1/100 25 [Khalifa: 2005]
Headache, Chronic Daily 1/100 25 [Lipton: 2011]
Intellectual Disability 1/100 25 [American: 2013]
Congenital Heart Defects, all 1/110 23 [Hugh: 2016]
Celiac Disease (all ages) 1/133 19 [Fasano: 2003]
Transgender (prevalence in US adults) 1/167 15 [Flores: 2016]
In Foster Care (national estimate) 1/185 14 [Administration: 2011]
Fetal Alcohol Spectrum Disorders 1/200 12 [National: 2017]
Seizure Disorder 1/256 10 [Hirtz: 2007]
Hearing Loss 1/333 8 [Finitzo: 1998]
Sickle Cell Disease 1/365 7 [Hassell: 2010]
Cerebral Palsy 1/474 5 [Oskoui: 2013]
Familial Hypercholesterolemia (heterozygote) 1/500 5 [Jorde: 2010]
Diabetes Mellitus, Type I, in children 1/588 4 [Diabetes: 2005]
Ventricular Septal Defect 1/593 4 [Bernstein: 2004]
Sickle Cell Anemia 1/601 4 [Hassell: 2010]
Cancer (all types, includes survivors) 1/725 3 [Hewitt: 2003]
Neural Tube Defects 1/760 3 [Utah: 2000]
Down Syndrome (birth prevalence) 1/826 3 [de: 2017]
Hearing Loss or Deafness, Congenital 1/909 3 [Mehra: 2009]
Hearing Loss, Serious (>40 db, bilat.) 1/935 3 [Mervis: 2002]
Visual Impairment (worse than 20/70) 1/935 3 [Mervis: 2002]
Cleft Lip, with or without cleft palate 1/940 3 [Parker: 2010]
Transgender adolescents (13-17) 1/978 3 [Herman: 2017]
XXY (Klinefelter) Syndrome 1/1,000 2 [Morris: 2008]
Club Foot 1/1,000 2 [Jorde: 2010]
Juvenile Arthritis 1/1,000 2 [von: 2001]
Stroke (>6/100,000/yr. x 16 yr.) 1/1,042 2 [Roach: 2000]
Idiopathic Thrombocytopenic Purpura (cum. incidence) 1/1,070 2 [Chu: 2000]
Hydrocephalus 1/1,220 2 [Persson: 2005]
Inflammatory Bowel Disease 1/1,408 2 [Kappelman: 2007]
Cleft palate, without cleft lip 1/1,574 2 [Parker: 2010]
Tetralogy of Fallot 1/1,657 2 [Parker: 2010]
Rheumatic Heart Disease 1/2,000 1 [Chin: 2006]
Rectal & Large Intestinal Atresia/Stenosis 1/2,138 1 [Parker: 2010]
Congenital Hypothyroidism 1/2,174 1 [Maniatis: 2006]
Crohn's Disease 1/2,193 1 [Kugathasan: 2003]
Gastroschisis 1/2,229 1 [Parker: 2010]
Patent Ductus Arteriosus 1/2,329 1 [Bernstein: 2004]
Atrial Septal Defect 1/2,329 1 [Bernstein: 2004]
All Tandem Mass-Screened Conditions 1/2,400 1 [Schulze: 2003]
Coarctation of the Aorta 1/2,717 0.9 [Bernstein: 2004]
Pulmonary Valve Stenosis 1/2,717 0.9 [Bernstein: 2004]
Spinal Cord Injury 1/2,861 0.9 [National: 2005]
Reduction Defects, upper limbs 1/2,869 0.9 [Parker: 2010]
Turner Syndrome 1/3,125 0.8 [Jorde: 2010]
Traumatic Brain Injury w/ persistent disability 1/3,190 0.8 [Zaloshnja: 2008]
d-Transposition of the Great Arteries 1/3,333 0.8 [Parker: 2010]
Growth Hormone Deficiency 1/3,480 0.7 [Lindsay: 1994]
Cystic Fibrosis 1/3,500 0.7 [Comeau: 2004]
Childhood Absence Epilepsy 1/3,571 0.7 [Posner: 2008]
Aortic Valve Stenosis 1/3,622 0.7 [Bernstein: 2004]
Trisomy 18 1/3,762 0.7 [Parker: 2010]
Amino Acid Disorders - total 1/3,800 0.7 [Schulze: 2003]
Diaphragmatic Hernia 1/3,836 0.7 [Parker: 2010]
Lennox-Gastaut syndrome 1/3,850 0.6 [Trevathan: 1997]
22q11.2 deletion syndrome 1/4,000 0.6 [McDonald-McGinn: 2011]
Neurofibromatosis, Type I 1/4,000 0.6 [Jorde: 2010]
Hypoplastic Left Heart Syndrome 1/4,344 0.6 [Parker: 2010]
Esophageal/Tracheoesophageal Atresia 1/4,608 0.5 [Parker: 2010]
Infantile Spasms 1/5,000 0.5 [Mackay: 2004]
Hirschsprung Disease 1/5,100 0.5 [Passarge: 2002]
Fragile X Syndrome 1/5,161 0.5 [Coffee: 2009]
Anophthalmia/Microphthalmia 1/5,349 0.5 [Parker: 2010]
Omphalocele 1/5,386 0.5 [Parker: 2010]
Charcot-Marie-Tooth Disease 1/5,714 0.4 [Morocutti: 2002]
Reduction defects, lower limbs 1/5,949 0.4 [Parker: 2010]
Spinal Muscular Atrophy (SMA) 1/6,000 0.4 [Jones: 2015]
Duchenne Muscular Dystrophy 1/7,000 0.4 [Jorde: 2010]
Osteogenesis Imperfecta 1/7,500 0.3 [Jorde: 2010]
Leukodystrophies 1/7,633 0.3 [Bonkowsky: 2010]
Trisomy 13 1/7,906 0.3 [Parker: 2010]
Hypoplastic Right Ventricle 1/8,150 0.3 [Bernstein: 2004]
Deafness 1/10,000 0.3 [Marazita: 1993]
Phenylketonuria 1/10,000 0.3 [Schulze: 2003]
Romano-Ward Syndrome 1/10,000 0.3 [Ackerman: 1998]
Fatty Acid Oxidation Disorders - total 1/10,400 0.2 [Schulze: 2003]
Single Ventricle 1/10,867 0.2 [Bernstein: 2004]
Total Anomalous Pulmonary Venous Return 1/10,867 0.2 [Bernstein: 2004]
Rett Syndrome 1/11,364 0.2 [Laurvick: 2006]
Chronic Renal Failure 1/13,387 0.2 [Ardissino: 2003]
Truncus Arteriosus 1/13,876 0.2 [Parker: 2010]
Hemophilia (A & B) 1/14,588 0.2 [Soucie: 1998]
Organic Acidurias - total 1/14,700 0.2 [Schulze: 2003]
Marfan Syndrome 1/15,000 0.2 [Jorde: 2010]
Congenital Adrenal Hyperplasia 1/15,000 0.2 [Pang: 1997]
Primary Ciliary Dyskinesia (immotile cilia) 1/15,000 0.2 [Knowles: 2013]
Angelman Syndrome 1/16,000 0.2 [Kyllerman: 2013]
Retinoblastoma 1/16,667 0.1 [Seregard: 2004]
Dilated Cardiomyopathy (0.57/100,000/yr.) 1/17,268 0.1 [Towbin: 2006]
MCADD 1/17,759 0.1 [Therrell: 2014]
Hemophilia A 1/18,619 0.1 [Soucie: 1998]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
Prader-Willi Syndrome 1/25,000 0.1 [Butler: 1990]
Acute Lymphoblastic Leukemia (ALL) 1/33,333 0.08 [U.S.: 2005]
Cancer, brain & CNS 1/34,483 0.07 [U.S.: 2005]
Myotonic Muscular Dystrophy 1/50,000 0.05 [Theadom: 2014]
Fabry Disease 1/50,000 0.05 [National: 2012]
Friedreich's Ataxia 1/50,000 0.05 [Durr: 1996]
Cornelia de Lange Syndrome 1/50,000 0.05 [Barisic: 2008]
Biotinidase deficiency 1/60,000 0.04 [Wolf: 1991]
VLCADD 1/63,000 0.04 [Therrell: 2014]
Hemophilia B 1/67,413 0.04 [Soucie: 1998]
Methylmalonic Acidemia 1/75,000 0.03 [Chace: 2001]
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) 1/83,300 0.03 [Schulze: 2003]
Hodgkin Lymphoma 1/83,333 0.03 [U.S.: 2005]
Non-Hodgkin Lymphoma 1/90,909 0.03 [U.S.: 2005]
Mucopolysaccharidosis Type I 1/100,000 0.03 [Moore: 2008]
Hurler Syndrome (Mucopolysaccharidosis type I) 1/100,000 0.03 [NINDS: 2006]
Cancer, bone & joint 1/111,111 0.02 [U.S.: 2005]
Guanidinoacetate Methyltransferase (GAMT) 1/114,000 0.02 [Mercimek-Mahmutoglu: 2015]
Tyrosinemia Type 1 1/120,000 0.02 [Scriver: 2001]
Neuroblastoma 1/131,579 0.02 [U.S.: 2005]
Acute Myeloid Leukemia (AML) 1/142,857 0.02 [U.S.: 2005]
Cancer, kidney & renal pelvis 1/166,667 0.01 [U.S.: 2005]
Wilms Tumor 1/172,414 0.01 [U.S.: 2005]
Maple Syrup Urine Disease 1/225,000 0.01 [Carleton: 2010]
Propionic Acidemia 1/238,346 0.01 [Therrell: 2014]
Isovaleric Acidemia 1/250,000 0.01 [Ensenauer: 2004]
LCHADD/TFP Deficiency 1/250,000 0.01 [Schulze: 2003]
Behçet's Disease 1/263,158 0.009 [Sakane: 1999]
Homocystinuria 1/300,000 0.008 [Shinawi: 2007]
Myasthenia Gravis 1/500,000 0.005
Chronic Granulomatous Disease 1/500,000 0.005
Familial Hypercholesterolemia (homozygote) 1/1,000,000 0.003
Arginase deficiency 1/2,000,000 0.001 [Nagata: 1991]