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 conditions listed may not be considered medical diagnoses. Use the Feedback button for questions or to suggest better prevalence studies.

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22q11.2 deletion syndrome 1/4,000 0.6 [McDonald-McGinn: 2011]
Acute Lymphoblastic Leukemia (ALL) 1/33,333 0.08 [U.S.: 2005]
Acute Myeloid Leukemia (AML) 1/142,857 0.02 [U.S.: 2005]
All Tandem Mass-Screened Conditions 1/2,400 1 [Schulze: 2003]
Amino Acid Disorders - total 1/3,800 0.7 [Schulze: 2003]
Angelman Syndrome 1/16,000 0.2 [Kyllerman: 2013]
Anophthalmia/Microphthalmia 1/5,349 0.5 [Parker: 2010]
Anxiety Disorder (cumulative by age 16; adj.) 1/30 83 [Costello: 2003]
Aortic Valve Stenosis 1/3,622 0.7 [Bernstein: 2004]
Arginase deficiency 1/2,000,000 0.001 [Nagata: 1991]
Asthma (Pediatric) 1/12 208 [National: 2016]
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Atrial Septal Defect 1/2,329 1 [Bernstein: 2004]
Attention Deficit Hyperactivity Disorder (1/11.5 of 8-15 year olds) 1/23 109 [Froehlich: 2007]
Autism Spectrum Disorder 1/68 37 [Christensen: 2016]
Behçet's Disease 1/263,158 0.009 [Sakane: 1999]
Biotinidase deficiency 1/60,000 0.04 [Wolf: 1991]
Cancer (all types, includes survivors) 1/725 3 [Hewitt: 2003]
Cancer, bone & joint 1/111,111 0.02 [U.S.: 2005]
Cancer, brain & CNS 1/34,483 0.07 [U.S.: 2005]
Cancer, kidney & renal pelvis 1/166,667 0.01 [U.S.: 2005]
Celiac Disease (all ages) 1/133 19 [Fasano: 2003]
Cerebral Palsy 1/474 5 [Oskoui: 2013]
Charcot-Marie-Tooth Disease 1/5,714 0.4 [Morocutti: 2002]
Childhood Absence Epilepsy 1/3,571 0.7 [Posner: 2008]
Childhood Obesity 1/6 417 [Ogden: 2012]
Chronic Granulomatous Disease 1/500,000 0.005
Chronic Renal Failure 1/13,387 0.2 [Ardissino: 2003]
Cleft Lip, with or without cleft palate 1/940 3 [Parker: 2010]
Cleft palate, without cleft lip 1/1,574 2 [Parker: 2010]
Club Foot 1/1,000 2 [Jorde: 2010]
Coarctation of the Aorta 1/2,717 0.9 [Bernstein: 2004]
Congenital Adrenal Hyperplasia 1/15,000 0.2 [Pang: 1997]
Congenital Heart Defects, all 1/110 23 [Hugh: 2016]
Congenital Hypothyroidism 1/2,174 1 [Maniatis: 2006]
Constipation 1/8 312 [Mugie: 2011]
Cornelia de Lange Syndrome 1/50,000 0.05 [Barisic: 2008]
Crohn's Disease 1/2,193 1 [Kugathasan: 2003]
Cystic Fibrosis 1/3,500 0.7 [Comeau: 2004]
d-Transposition of the Great Arteries 1/3,333 0.8 [Parker: 2010]
Deafness 1/10,000 0.3 [Marazita: 1993]
Depression 1/20 125 [Birmaher: 2007]
Diabetes Mellitus, Type I, in children 1/588 4 [Diabetes: 2005]
Diaphragmatic Hernia 1/3,836 0.7 [Parker: 2010]
Dilated Cardiomyopathy (0.57/100,000/yr.) 1/17,268 0.1 [Towbin: 2006]
Down Syndrome 1/691 4 [Parker: 2010]
Duchenne Muscular Dystrophy 1/7,000 0.4 [Jorde: 2010]
Esophageal/Tracheoesophageal Atresia 1/4,608 0.5 [Parker: 2010]
Fabry Disease 1/50,000 0.05 [National: 2012]
Familial Hypercholesterolemia (heterozygote) 1/500 5 [Jorde: 2010]
Familial Hypercholesterolemia (homozygote) 1/1,000,000 0.003
Fatty Acid Oxidation Disorders - total 1/10,400 0.2 [Schulze: 2003]
Fetal Alcohol Spectrum Disorders 1/200 12 [National: 2017]
Food Allergy 1/27 93 [Branum: 2009]
Fragile X Syndrome 1/5,161 0.5 [Coffee: 2009]
Friedreich's Ataxia 1/50,000 0.05 [Durr: 1996]
Gastroschisis 1/2,229 1 [Parker: 2010]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Growth Hormone Deficiency 1/3,480 0.7 [Lindsay: 1994]
Guanidinoacetate Methyltransferase (GAMT) 1/114,000 0.02 [Mercimek-Mahmutoglu: 2015]
Headache, Chronic Daily 1/100 25 [Lipton: 2011]
Headache, Migraine 1/13 192 [Lewis,: 2002]
Hearing Loss 1/333 8 [Finitzo: 1998]
Hearing Loss or Deafness, Congenital 1/909 3 [Mehra: 2009]
Hearing Loss, Serious (>40 db, bilat.) 1/935 3 [Mervis: 2002]
Hemophilia (A & B) 1/14,588 0.2 [Soucie: 1998]
Hemophilia A 1/18,619 0.1 [Soucie: 1998]
Hemophilia B 1/67,413 0.04 [Soucie: 1998]
Hirschsprung Disease 1/5,100 0.5 [Passarge: 2002]
Hodgkin Lymphoma 1/83,333 0.03 [U.S.: 2005]
Homocystinuria 1/300,000 0.008 [Shinawi: 2007]
HPV Infection (18% of girls 14-19) 1/63 40 [Dunne: 2007]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
Hurler Syndrome (Mucopolysaccharidosis type I) 1/100,000 0.03 [NINDS: 2006]
Hydrocephalus 1/1,220 2 [Persson: 2005]
Hypertension 1/22 114 [Sorof: 2004]
Hypoplastic Left Heart Syndrome 1/4,344 0.6 [Parker: 2010]
Hypoplastic Right Ventricle 1/8,150 0.3 [Bernstein: 2004]
Idiopathic Thrombocytopenic Purpura (cum. incidence) 1/1,070 2 [Chu: 2000]
In Foster Care (national estimate) 1/185 14 [Administration: 2011]
Infantile Spasms 1/5,000 0.5 [Mackay: 2004]
Inflammatory Bowel Disease 1/1,408 2 [Kappelman: 2007]
Intellectual Disability 1/100 25 [American: 2013]
Isovaleric Acidemia 1/250,000 0.01 [Ensenauer: 2004]
Juvenile Arthritis 1/1,000 2 [von: 2001]
LCHADD/TFP Deficiency 1/363,738 0.007 [Therrell: 2014]
Lennox-Gastaut syndrome 1/3,850 0.6 [Trevathan: 1997]
Leukodystrophies 1/7,633 0.3 [Bonkowsky: 2010]
LGBT (adults, US) 1/24 104 [Gates: 2017]
Maple Syrup Urine Disease 1/225,000 0.01 [Carleton: 2010]
Marfan Syndrome 1/15,000 0.2 [Jorde: 2010]
MCADD 1/17,759 0.1 [Therrell: 2014]
Methylmalonic Acidemia 1/75,000 0.03 [Chace: 2001]
Mucopolysaccharidosis Type I 1/100,000 0.03 [Moore: 2008]
Myasthenia Gravis 1/500,000 0.005
Myotonic Muscular Dystrophy 1/50,000 0.05 [Theadom: 2014]
Neural Tube Defects 1/760 3 [Utah: 2000]
Neuroblastoma 1/131,579 0.02 [U.S.: 2005]
Neurofibromatosis, Type I 1/4,000 0.6 [Jorde: 2010]
Non-Hodgkin Lymphoma 1/90,909 0.03 [U.S.: 2005]
Omphalocele 1/5,386 0.5 [Parker: 2010]
Organic Acidurias - total 1/14,700 0.2 [Schulze: 2003]
Osteogenesis Imperfecta 1/7,500 0.3 [Jorde: 2010]
Patent Ductus Arteriosus 1/2,329 1 [Bernstein: 2004]
Phenylketonuria 1/10,000 0.3 [Schulze: 2003]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Prader-Willi Syndrome 1/25,000 0.1 [Butler: 1990]
Premature Infant (<27 weeks) 1/100 25 [McCormick: 2011]
Primary Ciliary Dyskinesia (immotile cilia) 1/15,000 0.2 [Knowles: 2013]
Propionic Acidemia 1/238,346 0.01 [Therrell: 2014]
Pulmonary Valve Stenosis 1/2,717 0.9 [Bernstein: 2004]
Rectal & Large Intestinal Atresia/Stenosis 1/2,138 1 [Parker: 2010]
Reduction defects, lower limbs 1/5,949 0.4 [Parker: 2010]
Reduction Defects, upper limbs 1/2,869 0.9 [Parker: 2010]
Retinoblastoma 1/16,667 0.1 [Seregard: 2004]
Rett Syndrome 1/11,364 0.2 [Laurvick: 2006]
Rheumatic Heart Disease 1/2,000 1 [Chin: 2006]
Romano-Ward Syndrome 1/10,000 0.3 [Ackerman: 1998]
Seizure Disorder 1/256 10 [Hirtz: 2007]
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) 1/83,300 0.03 [Schulze: 2003]
Sickle Cell Anemia 1/601 4 [Hassell: 2010]
Sickle Cell Disease 1/365 7 [Hassell: 2010]
Single Ventricle 1/10,867 0.2 [Bernstein: 2004]
Speech Defects 1/38 66 [Newacheck: 1992]
Spinal Cord Injury 1/2,861 0.9 [National: 2005]
Spinal Muscular Atrophy (SMA) 1/6,000 0.4 [Jones: 2015]
Stroke (>6/100,000/yr. x 16 yr.) 1/1,042 2 [Roach: 2000]
Substance Use Disorders 1/13 192 [Han: 2015]
Tetralogy of Fallot 1/1,657 2 [Parker: 2010]
Total Anomalous Pulmonary Venous Return 1/10,867 0.2 [Bernstein: 2004]
Tourette Syndrome 1/100 25 [Khalifa: 2005]
Transgender (adults, US) 1/172 15 [Flores,: 2016]
Traumatic Brain Injury (cum. incidence) 1/168 15 [Schneier: 2006]
Trisomy 13 1/7,906 0.3 [Parker: 2010]
Trisomy 18 1/3,762 0.7 [Parker: 2010]
Truncus Arteriosus 1/13,876 0.2 [Parker: 2010]
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
Turner Syndrome 1/3,125 0.8 [Jorde: 2010]
Tyrosinemia Type 1 1/120,000 0.02 [Scriver: 2001]
Ventricular Septal Defect 1/593 4 [Bernstein: 2004]
Visual Impairment (worse than 20/70) 1/935 3 [Mervis: 2002]
VLCADD 1/63,000 0.04 [Therrell: 2014]
Wilms Tumor 1/172,414 0.01 [U.S.: 2005]
XXY (Klinefelter) Syndrome 1/1,000 2 [Morris: 2008]
≥1 Mental, Emotional, Behavioral Disorder 1/6 417 [O'Connell: 2009]