Prevalence and Incidence of Genetic Disease

Prevalance of Genetic Disease:

12 million Americans - unreliable estimate, (perhaps 2.5% births) ... see also overview of Genetic Disease.

Prevalance Rate:

approx 1 in 22 or 4.41% or 12 million people in USA [Source statistic for calcuation: "12 million Americans - unreliable estimate, (perhaps 2.5% births)" -- see also general information about data sources]

Prevalance of types of Genetic Disease:

For details see prevalence of types of Genetic Disease analysis; summary of available prevalence data:

• Autosomal dominant polycystic kidney disease: 540,000 Americans approximately (90% of PKD)
• Machado-Joseph Disease: rare
• Marfan syndrome: 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
• Otosclerosis: as many as 10% of Caucasians have the condition but most do not get symptoms; about 1 in 100 cases actually lose hearing from otosclerosis
• Coffin-Lowry syndrome: estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
• Incontinentia Pigmenti: 700 - 1,000 cases of incontinentia pigmenti have been reported, Genetics Home Reference website
• Alpers Syndrome: rare
• Autosomal Recessive Polycystic Kidney Disease: estimated 1 per 20,000 - 40,000 people suffer from the autosomal recessive type of polycystic kidney disease, Genetics Home Reference website
• Cystic Fibrosis: 1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website
• Sickle Cell Anemia: estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website
• Thalassemia: 1,000 people with Cooley's anemia (NHLBI)
• Usher Syndrome: 16,000 Americans
• Deuteranopia: about 1% of white males
• Fragile-X Syndrome: approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
• Hemophilia: 20,000 people in the United States (NHLBI)
• Protanopia: about 1% of white males
• Red-green color blindness: about 10% of males
• X-Linked Agammaglobulinemia: 1-in-100,000
• Adrenoleukodystrophy: 1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website
• Alexander Syndrome: rare
• Autoimmune Lymphoproliferative Syndrome: very rare; NIAID mentions 58 individuals
• Canavan disease: 1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website
• Charcot-Marie-Tooth Disorder: 150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
• Chronic Granulomatous Disease: 1-in-4 million to 5 million (NIAID)
• Ehlers-Danlos syndrome: estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website
• Gaucher Disease: 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
• Hallervorden-Spatz disease: rare
• Heritable Disorders of Connective Tissue: estimated 1 million people in USA with heritable connective tissue disorder (NIAMS)
• Hyperkalemic periodic paralysis: 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
• Hypokalemic periodic paralysis: 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
• Joubert Syndrome: rare
• Lesch-Nyhan syndrome: 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
• Mobius syndrome: rare
• Multiple endocrine neoplasia type 1: 3 per 100,000 up to 20 per 100,000 (NIDDK)
• Multiple endocrine neoplasia type 2: about 1 per 300 000 people suffer from multiple endocrine neoplasia type 1 in the US, Genetics Home Reference website
• Myotonic Dystrophy: Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
• Neurofibromatosis-1: 1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
• Osteogenesis imperfecta: 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
• Phenylketonuria: 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
• Polycystic kidney disease: 600,000 Americans
• Progeria: over 100 cases of Hutchinson-Gilford progeria syndrome have been reported worldwide since 1886, Genetics Home Reference website
• Retinoblastoma: 3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website
• Rett's syndrome: estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
• Sandhoff Disease: rare
• SCID: approximately 1-per-500,000 (NIDCD); 1-per-million
• Soto's Syndrome: rare
• Spinal Muscular Atrophy: 1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
• Tuberous sclerosis: less than 1 in 10,000
• Von Willebrand disease: estimated 3 million mostly undiagnosed
• Williams Syndrome: estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website
• Hereditary nonpolyposis colon cancer: 2-7% of all colorectal cancers are due to hereditary nonpolyposis colorectal cancer
• Heterozygous Familial Hypercholesterolemia: 1 per 500 US people suffer from Heterozygous familial hypercholesterolemia.
• Muscular dystrophy, Duchenne and Becker type: 1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website
• Homozygous Familial Hypercholesterolemia: 1 per 1 million US people suffer from Homozygous familial hypercholesterolemia.
• Amyotrophic lateral sclerosis: 4-8 per 1000,000 people suffer from amyotrophic lateral sclerosis worldwide, Genetics Home Reference website
• Alkaptonuria: 1 per 19,000 people suffer from alkaptonuria in parts of Slovakia, Genetics Home Reference website
• Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: 1 per 40,000 - 120,000 people suffer from very long-chain acyl-CoA dehydrogenase deficiency, Genetics Home Reference website
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency: 1 per 17,000 people suffer from medium-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
• Glutathione Synthetase Deficiency: only about 70 cases of glutathione synthetase deficiency have been reported worldwide, Genetics Home Reference website
• Cystinuria: approximately 1 per 10,000 people are affected by cystinuria, Genetics Home Reference website
• HMG-CoA lyase deficiency: less than 100 people have been diagnosed with HMG-CoA lyase deficiency worldwide, Genetics Home Reference website
• Pfeiffer syndrome: 1 per 100,000 people suffer from Pfeiffer syndrome, Genetics Home Reference website
• Aicardi syndrome: rare
• Osteogenesis imperfecta Type I: 3-4 per 100,000 people are affected by osteogenesis imperfecta type I worldwide, Genetics Home Reference website
• Amyotrophic lateral sclerosis, familial type 2: familial amyotrophic lateral sclerosis type 2 has been reported in only a few families, Genetics Home Reference website
• Amyotrophic lateral sclerosis, familial type 4: familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
• Amyotrophic lateral sclerosis, familial type 8: familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
• Amyotrophic lateral sclerosis, familial: 10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website
• Amyotrophic lateral sclerosis type 1: 3% of sporadic cases of amyotrophic lateral sclerosis are type 1, Genetics Home Reference website
• Osteogenesis imperfecta type IIII: 1-2 per 100,000 people are affected by osteogenesis imperfecta type IIII worldwide, Genetics Home Reference website
• Osteogenesis imperfecta type II: 1-2 per 100,000 people are affected by osteogenesis imperfecta type II worldwide, Genetics Home Reference website
• Osteogenesis imperfecta type IV: 3-4 per 100,000 people are affected by osteogenesis imperfecta type IV worldwide, Genetics Home Reference website
• Usher Syndrome Type 1: more than 4 per 100,000 people suffer from Usher syndrome type I, Genetics Home Reference website
• Familial emphysema: 70,000 Americans
• Gaucher disease type 1: 1 per 500 - 1,000 people of Ashkenazi Jewish heritage are affected by type 1 Gaucher disease, Genetics Home Reference website
• Gaucher disease type 2: less than 1 per 500,000 births are affected by Gaucher disease type 2, Genetics Home Reference website
• Gaucher disease type 3: less than 1 per 100,000 births are affected by Gaucher disease type 3, Genetics Home Reference website
• Chromosome 13 trisomy syndrome: estimated 1 per 10,000 newborns are affected by Trisomy 13, Genetics Home Reference website
• $47 XYY syndrome$: 1 per 1,000 males are born with 47,XYY syndrome, Genetics Home Reference website
• Klippel Feil Syndrome: rare
• Triple-X syndrome: 1 per 1,000 newborn girls suffer from triple X syndrome, Genetics Home Reference website
• GM2-gangliosidosis, AB variant: only a few cases of GM2-gangliosidosis, AB variant reported worldwide, Genetics Home Reference website
• Friedreich ataxia: estimated 1 per 40,000 people are affected by Friedreich ataxia, Genetics Home Reference website
• Werner syndrome: 1 per 20,000 - 40,000 people suffer from Werner syndrome in Japan, Genetics Home Reference website
• Waardenburg syndrome: estimated 1 per 10,000 - 20,000 people suffer from Waardenburg syndrome, Genetics Home Reference website
• Homocystinuria: at least 1 per 200,000 - 335,000 people are affected by homocystinuria worldwide, Genetics Home Reference website
• Galactosemia I: 1 per 30,000 liver births are affected by inherited galactosemia, Genetics Home Reference website
• Acidemia, methylmalonic: estimated 1 per 50,000 - 100,000 suffer from Methylmalonic acidemia, Genetics Home Reference website
• Hereditary sensory and autonomic neuropathy 3: estimated 1 per 3,700 people of Ashkenazi Jewish ancestry suffer from familial dysautonomia, Genetics Home Reference website
• Hereditary neuropathy with liability to pressure palsies: 2-5 per 100,000 people suffer from hereditary neuropathy with liability to pressure palsies, Genetics Home Reference website
• Niemann-Pick disease, type A: approximately 1 per 40,000 people of Ashkenazi Jewish descent have Niemann-Pick disease type A, Genetics Home Reference website
• Niemann-Pick disease, type C2: approximately 1 per 150,000 people have Niemann-Pick disease type C, Genetics Home Reference website
• Holt-Oram Syndrome: estimated 1 per 100,000 people suffer from Holt-Oram disease, Genetics Home Reference website
• Adrenal hypoplasia congenital, X-linked: 1 per 12,500 newborns suffer from adrenal hypoplasia congenita in the US, Genetics Home Reference website
• Familial atrial fibrillation: estimated 30% of cases of atrial fibrillation are inherited (familial), Genetics Home Reference website
• Dentinogenesis: estimated 1 per 6,000 - 8,000 people suffer from dentinogenesis imperfecta, Genetics Home Reference website
• Duane-radial ray syndrome: only a few cases of Duane-radial ray syndrome have been reported, Genetics Home Reference website
• Beta ketothiolase deficiency: 50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website
• Emery-Dreifuss muscular dystrophy, X-linked: estimated 1 per 100,000 people suffer from X-linked Emery-Dreifuss muscular dystrophy, Genetics Home Reference website
• Maple syrup urine disease: estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website
• Paramyotonia congenita: less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website
• $2-methylglutaconic aciduria type 3$: 1 per 10,000 newborns from Iraqi Jewish populations suffer from 2-methylglutaconic aciduria type 3, Genetics Home Reference website
• $3-methylglutaconic aciduria, type 1$: less than 20 cases of 2-methylglutaconic aciduria type 1 have been reported, Genetics Home Reference website
• Barth Syndrome: 1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website
• Cornelia de Lange Syndrome: estimated 1 per 10,000 - 30,000 newborns suffer from Cornelia de Lange syndrome, Genetics Home Reference website
• Crouzon Syndrome: 16 million newborns suffer from Crouzon syndrome, Genetics Home Reference website
• Chromosome 22q11.2 deletion syndrome: estimated 1 per 4,000 newborns are affected by chromosome 22q11.2 deletion syndrome, Genetics Home Reference website
• Turner Syndrome: 1 per 2,500 live female births are affected by Turner syndrome, Genetics Home Reference website
• Klinefelter syndrome: 1 per 500 - 1,000 males are affected by Klinefelter syndrome, Genetics Home Reference website
• Jacobs syndrome: 1-in-2000 approximately.
• Zellweger Syndrome: rare
• Von Hippel-Lindau Disease: rare
• Angelman syndrome: 1 per 12,000 - 20,000 people are affected by Angelman syndrome, Genetics Home Reference website
• Prader-Willi syndrome: estimated 1 per 10,000 - 25,000 people suffer from Prader-Willi syndrome, Genetics Home Reference website
• Cri-du-chat syndrome: 1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website
• Androgen Insensitivity Syndrome: very rare
• Chediak-Higashi Syndrome: rare
• Mucopolysaccharidosis type I Hurler-Scheie syndrome: about 200 people ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue)
• Pompe disease: 1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website
• Short QT syndrome: less than 30 cases of short QT syndrome have been reported, Genetics Home Reference website
• Androgenetic alopecia: estimated 35 million men suffer from androgenetic alopecia in the US, Genetics Home Reference website
• Pyruvate carboxylase deficiency: estimated 1 per 250,000 births are affected by pyruvate carboxylase deficiency, Genetics Home Reference website
• Isovaleric academia: 1 per 250,000 births are affected by isovaleric academia in the US, Genetics Home Reference website
• Propionic academia: estimated 1 per 100,000 live births suffer from propionic academia in the US, Genetics Home Reference website
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: estimated 1 per 62,000 people suffer from long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in Finland, Genetics Home Reference website
• Carnitine palmitoyl transferase 1 deficiency: less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website
• Arginase deficiency: estimated 1 per 300,000 - 1,000,000 people suffer from arginase deficiency, Genetics Home Reference website
• Carnitine palmitoyl transferase II deficiency, lethal neonatal form: the lethal neonatal form of carnitine palitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
• Hemochromatosis type 1: 1 million people suffer from hemochromatosis type 1 in the US, Genetics Home Reference website
• Holocarboxylase synthetase deficiency: estimated 1 per 87,000 people are affected by holocarboxylase synthetase deficiency, Genetics Home Reference website
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: estimated less than 100 people have been reportd with ornithine translocase deficiency worldwide, Genetics Home Reference website
• Carnitine-acylcarnitine translocase deficiency: about 30 cases of carnitine-acylcarnitine translocase deficiency have been confirmed, Genetics Home Reference website
• Citrullinemia II: 1 per 100,000 - 230,000 people have citrullinemia II in Japan , Genetics Home Reference website
• $3-methylcrotonyl-CoA carboxylase deficiency$: estimated 1 per 50,000 people suffer from 3-methylcrotonyl-CoA carboxylase deficiency, Genetics Home Reference website
• Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type: the infantile hepatocardiomusucular form of carnitine palmitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
• Carbamoyl-phosphate synthase 1 deficiency: estimated 1 per 800,000 newborns suffer from carbamoyl phosphate synthetase I deficiency in Japan, Genetics Home Reference website
• Biotinidase deficiency: about 1 per 60,000 newborns suffer from profound or partial biotinidase deficiency, Genetics Home Reference website
• Tyrosinemia, type III: only a few cases of tyrosinemia type III have been reported, Genetics Home Reference website
• N-acetyl glutamate synthetase deficiency: only a few cases of N-acetylglutamate synthase deficiency have been reported worldwide, Genetics Home Reference website
• Carnitine transporter deficiency: 1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
• Ornithine transcarbamylase (OTC) Deficiency: estimated 1 per 80,000 people suffer fro ornithine transcarbamylase deficiency, Genetics Home Reference website
• $2-methylbutyryl-coenzyme A dehydrogenase deficiency$: 1 per 250 - 500 people from Hmong populations in southeast Asia and America suffer from 2-methylbutyryl-coenzyme A dehydrogenase deficiency though many are asymptomatic, Genetics Home Reference website
• Citrullinemia I: 1 per 57,000 people have citrullinemia I worldwide , Genetics Home Reference website
• Krabbe leukodystrophy: 1 per 100,000 people are affected by Krabbe disease in the US, Genetics Home Reference website
• Glucose-6-Phosphate Dehydrogenase Deficiency: 1 in 10 African-American males suffer from glucose-6-phosphate dehydrogenase deficiency in the US, Genetics Home Reference website
• Short-Chain Acyl-CoA Dehydrogenase Deficiency: 1 per 40,000 - 100, 000 newborns suffer from short-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
• Fabry's Disease: rare
• Krabbé Disease: rare
• Isobutyryl-coenzyme A dehydrogenase deficiency: less than 5 cases of isobutyryl-coenzyme A dehydrogenase deficiency have been reported, Genetics Home Reference website
• Familial Mediterranean fever: estimated 1 per 250 - 1,000 people of Armenian, Arabic, Turkish, Jewish and Mediterranean ancestry suffer from Familial Mediterranean Fever, Genetics Home Reverence website
• X-linked sideroblastic anemia: several hundred cases of X-linked sideroblastic anemia have been reported worldwide, Genetics Home Reference website
• Familial hyperchylomicronemia: 1 per 1 million suffer from familial lipoprotein lipase deficiency worldwide, Genetics Home Reference website
• Pierre-Robin syndrome with fetal chondrodysplasia: only a few cases of Weissenbacher-Zweymuller syndrome have been reported worldwide, Genetics Home Reference website
• Porphyria cutanea tarda, familial type: 1-2 per 100,000 people are affected by porphyria cutanea tarda, Genetics Home Reference website
• Familial polyposis, autosomal recessive: 1 per 30,000 people are affected by familial adenomatous polyposis in the US, Genetics Home Reference website
• Otospondylomegaepiphyseal dysplasia: only a few families have been reported with otospondylomegaepiphyseal dysplasia, Genetics Home Reference website
• Neurofibromatosis-2: 1 per 25,000 people suffer from neurofibromatosis type 2, Genetics Home Reference website
• Alport Syndrome: 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website
• Distal hereditary motor neuropathy, type V: only a few cases of distal hereditary motor neuropathy, type V have been reported, Genetics Home Reference website
• Leber hereditary optic neuropathy: 1 per 30,000 - 50,000 people suffer from Leber hereditary optic neuropathy in northeast England and Finland, Genetics Home Reference website
• Partial androgen insensitivity: partial androgen insensitivity occurs in at least 2-5 per 100,000 live male births, Genetics Home Reference website
• Ellis-van Creveld syndrome: 1 per 60,000 - 200,000 newborns are affected by Ellis-van Creveld syndrome worldwide, Genetics Home Reference website
• Achondrogenesis: 1 per 40,000 - 60,000 people are affected by achondrogenesis type 2 and hypochondrogenesis, Genetics Home Reference website
• Diastrophic dysplasia: estimated 1 per 100,000 newborns are affected by diastrophic dysplasia, Genetics Home Reference website
• Pseudoxanthoma elasticum: 1 per 25,000 - 100,000 people are affected by pseudoxanthoma elasticum, Genetics Home Reference website
• Pendred syndrome: Pendred syndrome represents over 7% of all cases of hearing loss at birth, Genetics Home Reference website
• Severe combined immunodeficiency, X-linked: 1 per 50,000 - 100,000 births are affected by X-linked severe combined immunodeficiency, Genetics Home Reference website
• Stickler Syndrome: estimated 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome, Genetics Home Reference website
• Cadasil: about 400 people have been diagnosed with CADASIL worldwide, Genetics Home Reference website
• Tangier disease: about 50 cases of Tangier disease have been diagnosed worldwide, Genetics Home Reference website
• Alpha 1-Antitrypsin Deficiency: 1 per 5,000 - 7,000 people suffer from alpha-1 antitrypsin deficiency in North America, Genetics Home Reference website
• Brugada Syndrome: estimated 5 per 10,000 people suffer from Brugada syndrome worldwide, Genetic Home Reference website
• Smith-Lemli-Opitz Syndrome: estimated 1 per 20,000 - 40,000 newborns suffer from Smith-Lemli-Opitz syndrome, Genetics Home Reference website
• Alagille Syndrome: 1 per 20,000 - 70,000 people suffer from Alagille syndrome, Genetics Home Reference website
• Cystinosis: 1 per 26,000 newborns suffer from cystinosis in the Brittany province in France, Genetics Home Reference website
• Treacher-Collins Syndrome: estimated 1 per 50,000 people suffer from Treacher Collins syndrome, Genetics Home Reference website
• Bloom Syndrome: 1 per 48,000 people of Ashkenazi Jewish descent suffer from Bloom syndrome, Genetics Home Reference website
• Peutz-Jeghers Syndrome: estimated 1 per 250,000 - 300,000 people suffer from Peutz-Jeghers syndrome, Genetics Home Reference website
• Pantothenate kinase-associated neurodegeneration: estimated 1-3 per 1 million people are affected by Hallervorden-Spatz disease worldwide, Genetics Home Reference website
• Alstrom disease: about 425 cases of Alstrom disease reported worldwide, Genetics Home Reference website
• Severe achondroplasia with developmental delay and acanthosis nigricans: only a few cases of SADDAN have been reported worldwide, Genetics Home Reference website
• Birt-Hogg-Dube syndrome: over 60 cases of Birt-Hogg-Dube syndrome have been reported, Genetics Home Reference website
• Cowden's syndrome: estimated 1 per 200,000 people are affected by Cowden's syndrome, Genetic Home Reference website
• Hypohidrotic Ectodermal Dysplasia: estimated more than 1 per 17,000 people are affected by hypohidrotic ectodermal dysplasia worldwide, Genetics Home Reference website
• Andersen-Tawil syndrome: 100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference
• Potassium aggravated myotonia: only a few cases of potassium aggravated myotonia have been reported worldwide, Genetics Home Reference website
• Strudwick syndrome: only a few cases of the condition have been reported, Genetics Home Reference website
• Gaucher-like disease: only a few cases of Gaucher-like disease have been reported worldwide, Genetics Home Reference website
• Costello syndrome: only about 250 cases of Costello syndrome has been reported worldwide, Genetics Home Reference website
• Hereditary hemorrhagic telangiectasia: estimated 1 per 5,000 - 10,000 people suffer from hereditary hemorrhagic telangiectasia worldwide, Genetics Home Reference website
• Muenke Syndrome: estimated 1 per 30,000 newborns suffer from Muenke syndrome, Genetics Home Reference website
• Romano-Ward syndrome: estimated 1 per 7,000 people suffer from Romano-Ward syndrome worldwide, Genetics Home Reference website
• more types of Genetic Disease...»

Incidence of types of Genetic Disease:

For details see incidence of types of Genetic Disease analysis; summary of available incidence by type data:

• Cystic Fibrosis: 2,500 babies annually USA; 1 in 3,000 Caucasian babies
• Sickle Cell Anemia: 1 per 500 African American births; 1 per 1,000-1,400 Hispanic-American births
• Duchenne Muscular Dystrophy: about 1 in 3000 males¹.
• Fragile-X Syndrome: about 1 in 1500 males¹.
• Hemophilia: about 400 babies annually (NHLBI)
• Neurofibromatosis: about 1 in 3000¹.
• Osteogenesis imperfecta: about 1 in 10,000¹.
• Phenylketonuria: 1 of every 10,000 infants in the United States (NIDCD)
• Retinoblastoma: estimated 1 per 250 children are diagnosed with retinoblastomas each year, Genetics Home Reference website
• Rett's syndrome: 1 in 10,000-15,000 live female births
• Soto's Syndrome: estimated 1 per 5,000 newborns have Sotos syndrome which includes reported cases and undiagnosed cases, Genetics Home Reference website
• Hereditary nonpolyposis colon cancer: 16,000 new cases of colorectal cancer are diagnosed each year
• Amyotrophic lateral sclerosis: estimated 5,000 people are diagnosed with amyotrophic lateral sclerosis in the US, Genetics Home Reference website
• Familial emphysema: 1 in 3,000 newborns
• $47 XYY syndrome$: 5-10 males are born with 47,XYY syndrome each day in the US, Genetics Home Reference website
• Triple-X syndrome: 5-10 girls are born with triple X syndrome each day, Genetics Home Reference website
• Klinefelter syndrome: 1-in-500 to 1-in-1000 male births (NIDCD)
• Down Syndrome: 1-in-800 overall births
• Patau syndrome: 1-in-5000 approximately.
• Familial polyposis, autosomal recessive: 800 to 1,000 new cases of familial adenomatous polyposis are diagnosed each year in the US, Genetics Home Reference website
• X-linked adrenoleukodystrophy -- Addison disease only: 10% of males with X-linked adrenoleukodystrophy have the Addison only form of the disease, Genetics Home Reference website
• more types of Genetic Disease...»

About prevalence and incidence statistics:

The term 'prevalence' of Genetic Disease usually refers to the estimated population of people who are managing Genetic Disease at any given time. The term 'incidence' of Genetic Disease refers to the annual diagnosis rate, or the number of new cases of Genetic Disease diagnosed each year. Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence. For more information see about prevalence and incidence statistics.

Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995

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