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  4. Diagnosis Prevalence List

These numbers should reasonably reflect the relative prevalences of diagnoses among children in primary care practices, though they are based on studies that vary in design and populations and may involve assumptions about patient age distributions [Bocian: 1999]. Some listed conditions may not be considered medical diagnoses. Click Feedback for questions or to suggest better prevalence studies.

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Childhood Obesity 1/5 500 [Robert: 2014]
≥1 Mental, Emotional, Behavioral Disorder 1/6 417 [O'Connell: 2009]
Constipation 1/8 312 [Mugie: 2011]
Asthma (Pediatric) 1/12 208 [National: 2017]
Attention Deficit Hyperactivity Disorder (9.4% of 2-17 year olds) 1/12 208 [Division: 2018]
Headache, Migraine 1/13 192 [Lewis,: 2002]
Anxiety Disorder (cumulative by age 16; adj.) 1/14 179 [Ghandour: 2019]
Depression 1/20 125 [Birmaher: 2007]
Hypertension 1/22 114 [Sorof: 2004]
LGBT (adults, US) 1/24 104 [Gates: 2017]
Food Allergy 1/27 93 [Branum: 2009]
Speech Defects 1/38 66 [Newacheck: 1992]
Autism Spectrum Disorder 1/54 46 [Maenner: 2020]
Headache, Chronic Daily 1/100 25 [Lipton: 2011]
Intellectual Disability 1/100 25 [American: 2013]
Substance Use Needing Treatment (12-17 yrs.) 1/100 25 [Han: 2015]
Congenital Heart Defects, all 1/110 23 [Hugh: 2016]
Celiac Disease (all ages) 1/133 19 [Fasano: 2003]
Premature Infant (<27 weeks) 1/151 17 [National: 2020]
Transgender (prevalence in US adults) 1/167 15 [Flores: 2016]
Obsessive-Compulsive Disorder (OCD), 11-21 yrs. 1/183 14
Tourette Syndrome 1/200 12 [Scharf: 2015]
Fetal Alcohol Spectrum Disorders 1/200 12 [National: 2017]
In Foster Care (national estimate) 1/202 12 [Child: 2013]
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]
Postural Orthostatic Tachycardia Syndrome (POTS; 1% of adolescents) 1/568 4 [Bhatia: 2016]
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]
Neural Tube Defects 1/760 3 [Utah: 2000]
Eosinophilic Esophagitis 1/847 3 [Robson: 2019]
Down Syndrome 1/884 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 (0.73% of 13-17 year olds) 1/978 3 [Herman: 2017]
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]
Atrial Septal Defect 1/2,329 1 [Bernstein: 2004]
Patent Ductus Arteriosus 1/2,329 1 [Bernstein: 2004]
All Tandem Mass-Screened Conditions 1/2,400 1 [Schulze: 2003]
Sickle Cell Disease (national estimate) 1/2,699 0.9 [Hassell: 2010]
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]
Traumatic Brain Injury with 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]
Turner Syndrome (1/2000 females) 1/4,000 0.6 [Stochholm: 2006]
Neurofibromatosis, Type I 1/4,000 0.6 [Jorde: 2010]
22q11.2 Deletion Syndrome 1/4,000 0.6 [McDonald-McGinn: 2011]
Hypoplastic Left Heart Syndrome 1/4,344 0.6 [Parker: 2010]
Esophageal/Tracheoesophageal Atresia 1/4,608 0.5 [Parker: 2010]
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]
Reduction Defects, lower limbs 1/5,949 0.4 [Parker: 2010]
Charcot-Marie-Tooth Disease 1/6,369 0.4 [Theadom: 2019]
Infantile Spasms, history of (1/5,000 under 10 yrs.) 1/6,868 0.4 [Mackay: 2004]
Duchenne Muscular Dystrophy 1/7,000 0.4 [Jorde: 2010]
Osteogenesis Imperfecta 1/7,500 0.3 [Jorde: 2010]
Leukodystrophies 1/7,663 0.3 [Bonkowsky: 2010]
Trisomy 13 1/7,906 0.3 [Parker: 2010]
Hypoplastic Right Ventricle 1/8,150 0.3 [Bernstein: 2004]
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]
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]
Phenylketonuria (PKU) 1/16,500 0.2 [Therrell: 2014]
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]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Biotinidase Deficiency, partial 1/24,957 0.1 [Therrell: 2014]
Multiple Sclerosis 1/25,000 0.1 [Marrie: 2018]
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]
Galactosemia (GALT deficiency) 1/48,000 0.05 [Therrell: 2015]
Fabry Disease 1/50,000 0.05 [National: 2022]
Spinal Muscular Atrophy (SMA) 1/50,000 0.05 [Verhaart: 2017]
Myotonic Muscular Dystrophy 1/50,000 0.05 [Theadom: 2014]
Friedreich's Ataxia 1/50,000 0.05 [Durr: 1996]
Cornelia de Lange Syndrome 1/50,000 0.05 [Barisic: 2008]
VLCADD 1/63,481 0.04 [Therrell: 2014]
Hemophilia B 1/67,413 0.04 [Soucie: 1998]
Biotinidase Deficiency, profound 1/67,766 0.04 [Therrell: 2014]
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]
Galactosemia (GALK deficiency) 1/100,000 0.03 [Berry: 2021]
Mucopolysaccharidosis Type I (Hurler syndrome) 1/100,000 0.03 [Moore: 2008]
Cancer, bone & joint 1/111,111 0.02 [U.S.: 2005]
Guanidinoacetate Methyltransferase (GAMT) 1/114,000 0.02 [Mercimek-Andrews: 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 1/197,714 0.01 [Therrell: 2014]
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]
Argininosuccinic Aciduria 1/300,000 0.008 [Therrell: 2014]
LCHAD 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
TFP Deficiency 1/1,822,568 0.001 [Therrell: 2014]
Arginase Deficiency 1/2,000,000 0.001 [Nagata: 1991]