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