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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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Sort by Diagnosis Sort by Prevalence Patients in your practice Citation
Arginase Deficiency 1/2,000,000 0.001 [Nagata: 1991]
TFP Deficiency 1/1,822,568 0.001 [Therrell: 2014]
Familial Hypercholesterolemia (homozygote) 1/1,000,000 0.003
Chronic Granulomatous Disease 1/500,000 0.005
Myasthenia Gravis 1/500,000 0.005
LCHAD Deficiency 1/363,738 0.007 [Therrell: 2014]
Homocystinuria 1/300,000 0.008 [Shinawi: 2007]
Argininosuccinic Aciduria 1/300,000 0.008 [Therrell: 2014]
Behçet's Disease 1/263,158 0.009 [Sakane: 1999]
Isovaleric Acidemia 1/250,000 0.01 [Ensenauer: 2004]
Propionic Acidemia 1/238,346 0.01 [Therrell: 2014]
Maple Syrup Urine Disease 1/197,714 0.01 [Therrell: 2014]
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-Andrews: 2015]
Cancer, bone & joint 1/111,111 0.02 [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]
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]
Biotinidase Deficiency, profound 1/67,766 0.04 [Therrell: 2014]
Hemophilia B 1/67,413 0.04 [Soucie: 1998]
VLCADD 1/63,481 0.04 [Therrell: 2014]
Fabry Disease 1/50,000 0.05 [National: 2022]
Spinal Muscular Atrophy (SMA) 1/50,000 0.05 [Verhaart: 2017]
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]
Galactosemia (GALT deficiency) 1/48,000 0.05 [Therrell: 2015]
Cancer, brain & CNS 1/34,483 0.07 [U.S.: 2005]
Acute Lymphoblastic Leukemia (ALL) 1/33,333 0.08 [U.S.: 2005]
Multiple Sclerosis 1/25,000 0.1 [Marrie: 2018]
Prader-Willi Syndrome 1/25,000 0.1 [Butler: 1990]
Biotinidase Deficiency, partial 1/24,957 0.1 [Therrell: 2014]
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Glycogen Metabolism/Storage Diseases 1/20,000 0.1
Tuberous Sclerosis 1/20,000 0.1 [Northrup: 2013]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
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]
Phenylketonuria (PKU) 1/16,500 0.2 [Therrell: 2014]
Angelman Syndrome 1/16,000 0.2 [Kyllerman: 2013]
Primary Ciliary Dyskinesia (immotile cilia) 1/15,000 0.2 [Knowles: 2013]
Congenital Adrenal Hyperplasia 1/15,000 0.2 [Pang: 1997]
Marfan Syndrome 1/15,000 0.2 [Jorde: 2010]
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]
Romano-Ward Syndrome 1/10,000 0.3 [Ackerman: 1998]
Deafness 1/10,000 0.3 [Marazita: 1993]
Hypoplastic Right Ventricle 1/8,150 0.3 [Bernstein: 2004]
Trisomy 13 1/7,906 0.3 [Parker: 2010]
Leukodystrophies 1/7,663 0.3 [Bonkowsky: 2010]
Osteogenesis Imperfecta 1/7,500 0.3 [Jorde: 2010]
Duchenne Muscular Dystrophy 1/7,000 0.4 [Jorde: 2010]
Infantile Spasms, history of (1/5,000 under 10 yrs.) 1/6,868 0.4 [Mackay: 2004]
Charcot-Marie-Tooth Disease 1/6,369 0.4 [Theadom: 2019]
Reduction Defects, lower limbs 1/5,949 0.4 [Parker: 2010]
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]
Esophageal/Tracheoesophageal Atresia 1/4,608 0.5 [Parker: 2010]
Hypoplastic Left Heart Syndrome 1/4,344 0.6 [Parker: 2010]
Neurofibromatosis, Type I 1/4,000 0.6 [Jorde: 2010]
Turner Syndrome (1/2000 females) 1/4,000 0.6 [Stochholm: 2006]
22q11.2 Deletion Syndrome 1/4,000 0.6 [McDonald-McGinn: 2011]
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 with Persistent Disability 1/3,190 0.8 [Zaloshnja: 2008]
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]
Sickle Cell Disease (national estimate) 1/2,699 0.9 [Hassell: 2010]
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]
Juvenile Arthritis 1/1,000 2 [von: 2001]
XXY (Klinefelter) Syndrome 1/1,000 2 [Morris: 2008]
Club Foot 1/1,000 2 [Jorde: 2010]
Transgender Adolescents (0.73% of 13-17 year olds) 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 1/884 3 [de: 2017]
Eosinophilic Esophagitis 1/847 3 [Robson: 2019]
Neural Tube Defects 1/760 3 [Utah: 2000]
Cancer (all types, includes survivors) 1/725 3 [Hewitt: 2003]
Ventricular Septal Defect 1/593 4 [Bernstein: 2004]
Diabetes Mellitus, Type I, in children 1/588 4 [Diabetes: 2005]
Postural Orthostatic Tachycardia Syndrome (POTS; 1% of adolescents) 1/568 4 [Bhatia: 2016]
Familial Hypercholesterolemia (heterozygote) 1/500 5 [Jorde: 2010]
Cerebral Palsy 1/474 5 [Oskoui: 2013]
Hearing Loss 1/333 8 [Finitzo: 1998]
Seizure Disorder 1/256 10 [Hirtz: 2007]
In Foster Care (national estimate) 1/202 12 [Child: 2013]
Tourette Syndrome 1/200 12 [Scharf: 2015]
Fetal Alcohol Spectrum Disorders 1/200 12 [National: 2017]
Obsessive-Compulsive Disorder (OCD), 11-21 yrs. 1/183 14
Transgender (prevalence in US adults) 1/167 15 [Flores: 2016]
Premature Infant (<27 weeks) 1/151 17 [National: 2020]
Celiac Disease (all ages) 1/133 19 [Fasano: 2003]
Congenital Heart Defects, all 1/110 23 [Hugh: 2016]
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]
Autism Spectrum Disorder 1/54 46 [Maenner: 2020]
Speech Defects 1/38 66 [Newacheck: 1992]
Food Allergy 1/27 93 [Branum: 2009]
LGBT (adults, US) 1/24 104 [Gates: 2017]
Hypertension 1/22 114 [Sorof: 2004]
Depression 1/20 125 [Birmaher: 2007]
Anxiety Disorder (cumulative by age 16; adj.) 1/14 179 [Ghandour: 2019]
Headache, Migraine 1/13 192 [Lewis,: 2002]
Attention Deficit Hyperactivity Disorder (9.4% of 2-17 year olds) 1/12 208 [Division: 2018]
Asthma (Pediatric) 1/12 208 [National: 2017]
Constipation 1/8 312 [Mugie: 2011]
≥1 Mental, Emotional, Behavioral Disorder 1/6 417 [O'Connell: 2009]
Childhood Obesity 1/5 500 [Robert: 2014]