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.

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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]
Headache, Migraine 1/13 192 [Lewis,: 2002]
Asthma (Pediatric) 1/20 125 [McNamara,: 2005]
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]
Substance Use Disorders (11.4% of 12-18) 1/35 71 [Knight: 2007]
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]
Intellectual Disability 1/100 25 [American: 2013]
Tourette Syndrome 1/100 25 [Khalifa: 2005]
Headache, Chronic Daily 1/100 25 [Lipton: 2011]
Premature Infant (<27 weeks) 1/100 25 [McCormick: 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]
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]
Cancer (all types, includes survivors) 1/725 3 [Hewitt: 2003]
Down Syndrome 1/733 3 [MMWR: 2006]
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 1/954 3 [MMWR: 2006]
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]
Fetal Alcohol Syndrome 1/1,180 2 [Bertrand: 2005]
Hydrocephalus 1/1,220 2 [Persson: 2005]
Inflammatory Bowel Disease 1/1,408 2 [Kappelman: 2007]
Rheumatic Heart Disease 1/2,000 1 [Chin: 2006]
Rectal & Large Intestinal Atresia/Stenosis 1/2,079 1 [MMWR: 2006]
d-Transposition of the Great Arteries 1/2,110 1 [MMWR: 2006]
Congenital Hypothyroidism 1/2,174 1 [Maniatis: 2006]
Crohn's Disease 1/2,193 1 [Kugathasan: 2003]
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]
Tetralogy of Fallot 1/2,551 1 [MMWR: 2006]
Reduction Defects, upper limbs 1/2,639 0.9 [MMWR: 2006]
Gastroschisis 1/2,681 0.9 [MMWR: 2006]
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]
Turner Syndrome 1/3,125 0.8 [Jorde: 2010]
Diaphragmatic Hernia 1/3,401 0.7 [MMWR: 2006]
Growth Hormone Deficiency 1/3,480 0.7 [Lindsay: 1994]
Childhood Absence Epilepsy 1/3,571 0.7 [Posner: 2008]
Aortic Valve Stenosis 1/3,622 0.7 [Bernstein: 2004]
Amino Acid Disorders - total 1/3,800 0.7 [Schulze: 2003]
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 1/4,115 0.6 [MMWR: 2006]
Esophageal/Tracheoesophageal Atresia 1/4,129 0.6 [MMWR: 2006]
Trisomy 18 1/4,149 0.6 [MMWR: 2006]
Sickle Cell Disease 1/4,167 0.6 [Jorde: 2010]
Cystic Fibrosis 1/4,192 0.6 [Kaye,: 2006]
Anophthalmia/Microphthalmia 1/4,808 0.5 [MMWR: 2006]
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]
Charcot-Marie-Tooth Disease 1/5,714 0.4 [Morocutti: 2002]
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]
Trisomy 13 1/7,519 0.3 [MMWR: 2006]
Leukodystrophies 1/7,633 0.3 [Bonkowsky: 2010]
Hypoplastic Right Ventricle 1/8,150 0.3 [Bernstein: 2004]
Phenylketonuria 1/10,000 0.3 [Schulze: 2003]
Deafness 1/10,000 0.3 [Marazita: 1993]
Romano-Ward Syndrome 1/10,000 0.3 [Ackerman: 1998]
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]
Truncus Arteriosus 1/12,195 0.2 [MMWR: 2006]
Chronic Renal Failure 1/13,387 0.2 [Ardissino: 2003]
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]
Primary Ciliary Dyskinesia (immotile cilia) 1/15,000 0.2 [Knowles: 2013]
Congenital Adrenal Hyperplasia 1/15,000 0.2 [Pang: 1997]
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]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
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]
Friedreich's Ataxia 1/50,000 0.05 [Durr: 1996]
Fabry Disease 1/50,000 0.05 [National: 2012]
Cornelia de Lange Syndrome 1/50,000 0.05 [Barisic: 2008]
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]
Hodgkin Lymphoma 1/83,333 0.03 [U.S.: 2005]
Ataxia-Telangiectasia 1/90,000 0.03
Non-Hodgkin Lymphoma 1/90,909 0.03 [U.S.: 2005]
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]
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]
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]