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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
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.) 1/14 179 [Ghandour: 2019]
Aortic Valve Stenosis 1/3,622 0.7 [Bernstein: 2004]
Arginase Deficiency 1/2,000,000 0.001 [Nagata: 1991]
Argininosuccinic Aciduria 1/300,000 0.008 [Therrell: 2014]
Asthma (Pediatric) 1/12 208 [National: 2017]
Ataxia-Telangiectasia 1/20,000 0.1 [Rothblum-Oviatt: 2016]
Atrial Septal Defect 1/2,329 1 [Bernstein: 2004]
Attention Deficit Hyperactivity Disorder (9.4% of 2-17 year olds) 1/12 208 [Division: 2018]
Autism Spectrum Disorder 1/54 46 [Maenner: 2020]
Behçet's Disease 1/263,158 0.009 [Sakane: 1999]
Biotinidase Deficiency, partial 1/24,957 0.1 [Therrell: 2014]
Biotinidase Deficiency, profound 1/67,766 0.04 [Therrell: 2014]
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 1/6,369 0.4 [Theadom: 2019]
Childhood Absence Epilepsy 1/3,571 0.7 [Posner: 2008]
Childhood Obesity 1/5 500 [Robert: 2014]
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 1/884 3 [de: 2017]
Duchenne Muscular Dystrophy 1/7,000 0.4 [Jorde: 2010]
Eosinophilic Esophagitis 1/847 3 [Robson: 2019]
Esophageal/Tracheoesophageal Atresia 1/4,608 0.5 [Parker: 2010]
Fabry Disease 1/50,000 0.05 [National: 2022]
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]
Galactosemia (GALK deficiency) 1/100,000 0.03 [Berry: 2021]
Galactosemia (GALT deficiency) 1/48,000 0.05 [Therrell: 2015]
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-Andrews: 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]
Huntington Disease 1/20,000 0.1 [Jorde: 2010]
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) 1/202 12 [Child: 2013]
Infantile Spasms, history of (1/5,000 under 10 yrs.) 1/6,868 0.4 [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]
LCHAD Deficiency 1/363,738 0.007 [Therrell: 2014]
Lennox-Gastaut Syndrome 1/3,850 0.6 [Trevathan: 1997]
Leukodystrophies 1/7,663 0.3 [Bonkowsky: 2010]
LGBT (adults, US) 1/24 104 [Gates: 2017]
Maple Syrup Urine Disease 1/197,714 0.01 [Therrell: 2014]
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 (Hurler syndrome) 1/100,000 0.03 [Moore: 2008]
Multiple Sclerosis 1/25,000 0.1 [Marrie: 2018]
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]
Obsessive-Compulsive Disorder (OCD), 11-21 yrs. 1/183 14
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 (PKU) 1/16,500 0.2 [Therrell: 2014]
Polycystic Kidney Disease, autsomal recessive 1/20,000 0.1 [Zerres: 1998]
Postural Orthostatic Tachycardia Syndrome (POTS; 1% of adolescents) 1/568 4 [Bhatia: 2016]
Prader-Willi Syndrome 1/25,000 0.1 [Butler: 1990]
Premature Infant (<27 weeks) 1/151 17 [National: 2020]
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 Disease (national estimate) 1/2,699 0.9 [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) 1/50,000 0.05 [Verhaart: 2017]
Stroke (>6/100,000/yr. x 16 yr.) 1/1,042 2 [Roach: 2000]
Substance Use Needing Treatment (12-17 yrs.) 1/100 25 [Han: 2015]
Tetralogy of Fallot 1/1,657 2 [Parker: 2010]
TFP Deficiency 1/1,822,568 0.001 [Therrell: 2014]
Total Anomalous Pulmonary Venous Return 1/10,867 0.2 [Bernstein: 2004]
Tourette Syndrome 1/200 12 [Scharf: 2015]
Transgender (prevalence in US adults) 1/167 15 [Flores: 2016]
Transgender Adolescents (0.73% of 13-17 year olds) 1/978 3 [Herman: 2017]
Traumatic Brain Injury with Persistent Disability 1/3,190 0.8 [Zaloshnja: 2008]
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 (1/2000 females) 1/4,000 0.6 [Stochholm: 2006]
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 1/63,481 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]