Diagnosis Prevalence List

Though these calculations are based on studies that vary widely in design and populations studied and some involve assumptions about age distributions, they should reasonably reflect the relative prevalence of diagnoses among children in primary care practices. Please use the Feedback button if you have questions or to suggest better prevalence studies.

Practice Size:
Sort by Diagnosis Sort by Prevalence Patients in your practice Citation
≥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]
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]
HPV Infection (18% of girls 14-19) 1/63 40 [Dunne: 2007]
Autism Spectrum Disorder 1/68 37 [Christensen: 2016]
Premature Infant (<27 weeks) 1/100 25 [McCormick: 2011]
Intellectual Disability 1/100 25 [American: 2013]
Tourette Syndrome 1/100 25 [Khalifa: 2005]
Headache, Chronic Daily 1/100 25 [Lipton: 2011]
Congenital Heart Defects, all 1/110 23 [Hugh: 2016]
Celiac Disease (all ages) 1/133 19 [Fasano: 2003]
Traumatic Brain Injury (cum. incidence) 1/168 15 [Schneier: 2006]
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]
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]
Down Syndrome 1/691 4 [Parker: 2010]
Cancer (all types, includes survivors) 1/725 3 [Hewitt: 2003]
Neural Tube Defects 1/760 3 [Utah: 2000]
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]
Juvenile Arthritis 1/1,000 2 [von: 2001]
Club Foot 1/1,000 2 [Jorde: 2010]
XXY (Klinefelter) Syndrome 1/1,000 2 [Morris: 2008]
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]
Pulmonary Valve Stenosis 1/2,717 0.9 [Bernstein: 2004]
Coarctation of the Aorta 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]
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]
Sickle Cell Disease 1/4,167 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]
Phenylketonuria 1/10,000 0.3 [Schulze: 2003]
Romano-Ward Syndrome 1/10,000 0.3 [Ackerman: 1998]
Deafness 1/10,000 0.3 [Marazita: 1993]
Fatty Acid Oxidation Disorders - total 1/10,400 0.2 [Schulze: 2003]
Total Anomalous Pulmonary Venous Return 1/10,867 0.2 [Bernstein: 2004]
Single Ventricle 1/10,867 0.2 [Bernstein: 2004]
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]
Congenital Adrenal Hyperplasia 1/15,000 0.2 [Pang: 1997]
Primary Ciliary Dyskinesia (immotile cilia) 1/15,000 0.2 [Knowles: 2013]
Marfan Syndrome 1/15,000 0.2 [Jorde: 2010]
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]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Prader-Willi Syndrome 1/25,000 0.1 [Butler: 1990]
VLCADD 1/30,000 0.08 [Leslie: 2009]
Rett Syndrome 1/30,000 0.08 [Laurvick: 2006]
Acute Lymphoblastic Leukemia (ALL) 1/33,333 0.08 [U.S.: 2005]
Cancer, brain & CNS 1/34,483 0.07 [U.S.: 2005]
Fabry Disease 1/50,000 0.05 [National: 2012]
Cornelia de Lange Syndrome 1/50,000 0.05 [Barisic: 2008]
Friedreich's Ataxia 1/50,000 0.05 [Durr: 1996]
Myotonic Muscular Dystrophy 1/50,000 0.05 [Theadom: 2014]
Biotinidase deficiency 1/60,000 0.04 [Wolf: 1991]
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]
Behçet's Disease 1/263,158 0.009 [Sakane: 1999]
Homocystinuria 1/300,000 0.008 [Shinawi: 2007]
LCHADD/TFP Deficiency 1/363,738 0.007 [Therrell: 2014]
Chronic Granulomatous Disease 1/500,000 0.005
Myasthenia Gravis 1/500,000 0.005
Familial Hypercholesterolemia (homozygote) 1/1,000,000 0.003
Arginase deficiency 1/2,000,000 0.001 [Nagata: 1991]