Diseases and Conditions Identified in Children

 

The list of health conditions found on this page is not an exhaustive list of health conditions that may impact the lives of children in Minnesota. The health conditions included here are either identified birth defects tracked by CYSHN activities or are conditions diagnosed as part of the Minnesota Newborn Screening Program. You will find basic information about these various health conditions including a general description of the condition and how to find more information and resources. If the health condition you are looking for is not included here, it may be found on the A-Z Listing of Diseases & Conditions

QUICK LINKS: alphabetical list of fact sheets available

Select a Condition to Display 22q11.2 Deletion Syndrome 2,4 Dienoyl-CoA reductase (DE RED) deficiency 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-hydroxy-3-methylglutaric aciduria (HMG) 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency 3-methylglutaconic aciduria, type I (3MGA) Anencephalus Aniridia Anophthalmia and microphthalmia Anotia / microtia Argininemia (ARG) Argininosuccinate acidemia (ASA) Atrial septal defect Autism and autism spectrum disorders Beta-ketothiolase (BKT) deficiency Biliary atresia Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Bladder exstrophy Carnitine-acylcarnitine translocase (CACT) deficiency Carnitine palmitoyl translocase I (CPT-IA) deficiency Carnitine palmitoyl translocase Type II (CPT-II) deficiency Carnitine uptake defect (CUD) Choanal atresia Citrullinemia (CIT) Classic galactosemia (GALT) Cleft lip and palate Cloacal Exstrophy Club Foot (includes Talipes Equinovarus) Coarctation of the aorta Congenital adrenal hyperplasia (CAH) Congenital cataract Congenital hip dislocation Congenital hypothyroidism (CH) Cystic fibrosis Diaphragmatic hernia Down syndrome Duarte galactosemia (DG or D/G galactosemia) Ebstein's anomaly Encephalocele Endocardial cushion defect Esophageal atresia Fetal alcohol spectrum disorder Galactoepimerase (GALE) deficiency Galactokinase (GALK) deficiency Gastroschisis Glutaric acidemia, type I (GA-1) Glutaric acidemia, type II (GA-2) Hearing loss Hirschsprung's disease Holocarboxylase Synthetase Deficiency (also known as early-onset multiple carboxylase deficiency, MCD) Holoprosencephaly (HPE) Homocystinuria (HCY) Hydrocephalus Hypermethioninemia (MET) Hypoplastic left heart syndrome Hypospadius Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Limb Deficiencies (reduction defects) Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Malonic acidemia (MAL) Maple syrup urine disease (MSUD) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Medium-chain ketoacyl-CoA dehydrogenase (MCKAT) deficiency Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency Methylmalonic acidemia cobalamin disorders (MMA Cbl A, B) Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency) Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F) Microcephalus Obstructive genitourinary defect Omphalocele Partial biotinidase (Partial BIOT) deficiency Patent ductus arteriosus Phenylalanine Hydroxylase Deficiency (PAH) Profound biotinidase (BIOT) deficiency Propionic acidemia (PROP) Pulmonary atresia and pulmonary stenosis Pyloric stenosis Rectal and large intestinal atresia / stenosis Renal agenesis / hypoplasia Severe combined immunodeficiency (SCID) Short chain acyl-CoA dehydrogenase (SCAD) deficiency Sickle cell disease (SCD) Small Intestine Atresia and Stenosis Spina bifida Transposition of the great arteries Tricuspid valve atresia and stenosis Trifunctional protein deficiency (TFP) Trisomy 13 Trisomy 18 Truncus Arteriosus Turner Syndrome Tyrosinemia, Type I (TYR-I) Tyrosinemia, Type II (TYR-II) Tyrosinemia, Type III (TYR-III) Ventricular septal defect Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Amino Acid Disorders

• Argininemia (ARG)
• Argininosuccinate acidemia (ASA)
• Biopterin defect in cofactor biosynthesis (BIOPT-BS)
• Biopterin defect in cofactor regeneration (BIOPT-REG)
• Citrullinemia (CIT)
• Homocystinuria
• Hypermethioninemia (MET)
• Maple syrup urine disease (MSUD)
• Phenylalanine Hydroxylase Deficiency (PAH)
• Tyrosinemia, Type I (TYR-I)
• Tyrosinemia, Type II (TYR-II)
• Tyrosinemia, Type III (TYR-III)

Cardiovascular Conditions

• Atrial septal defect
• Coarctation of the aorta
• Ebstein's anomaly
• Endocardial cushion defect
• Hypoplastic left heart syndrome
• Patent ductus arteriosus
• Pulmonary atresia and pulmonary stenosis
• Transposition of the great arteries
• Tricuspid valve atresia and stenosis
• Truncus Arteriosus
• Ventricular septal defect

Central Nervous System Conditions

• Anencephalus
• Encephalocele
• Holoprosencephaly (HPE)
• Hydrocephalus
• Microcephalus
• Spina bifida

Chromosomal Conditions

• Down syndrome
• Trisomy 13
• Trisomy 18
• Turner Syndrome

Ear Conditions

• Anotia / microtia

Endocrine Disorders

• Congenital adrenal hyperplasia (CAH)
• Congenital hypothyroidism (CH)

Eye Conditions

• Aniridia
• Anophthalmia and microphthalmia
• Congenital cataract

Fatty Acid Oxidation Disorders

• 2,4 Dienoyl-CoA reductase (DE RED) deficiency
• Carnitine-acylcarnitine translocase (CAC/ CAT/ CACT) deficiency
• Carnitine palmitoyltransferase type I (CPT-IA) deficiency
• Carnitine palmitoyltransferase type II (CPT-II) deficiency
• Carnitine uptake defect (CUD)
• Glutaric acidemia, type II (GA-2)
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
• Medium-chain ketoacyl-CoA thiolase (MCKAT) deficiency
• Medium/short-chain L-3-hydroxyacyl-CoA dehydroganase (M/SCHAD) deficiency
• Short chain acyl-CoA dehydrogenase (SCAD) deficiency
• Trifunctional protein (TFP) deficiency
• Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Gastrointestinal Conditions

• Biliary atresia
• Esophageal atresia
• Hirschsprung's disease
• Pyloric stenosis
• Rectal and large intestinal atresia / stenosis
• Small Intestine Atresia and Stenosis

Genitourinary Conditions

• Bladder exstrophy
• Cloacal Exstrophy
• Hypospadius
• Obstructive genitourinary defect
• Renal Agenesis / hypoplasia

Hearing

• Hearing loss
• Deaf or Hard of Hearing Resources (includes eligibility for early intervention services)

Hemoglobinopathies

• Sickle cell disease (SCD)

Musculoskeletal Conditions

• Club Foot (includes Talipes Equinovarus)
• Congenital hip dislocation
• Diaphragmatic hernia
• Gastroschisis
• Limb Deficiencies (reduction defects)
• Omphalocele

Orofacial Conditions

• Choanal atresia
• Cleft lip and palate

Organic Acid Disorders

• 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
• 2-Methylbutyrylglycinuria (2MBG)
• 3-Methylcrotonyl-CoA carboxylase (3-MCC) Deficiency
• 3-methylglutaconic aciduria, type I (3MGA)
• 3-hydroxy-3-methylglutaric aciduria (HMG)
• Beta-ketothiolase (BKT) deficiency
• Glutaric Acidemia, type 1 (GA-1)
• Holocarboxylase Synthetase Deficiency (also known as early-onset multiple carboxylase deficiency, MCD)
• Isobutyrylglycinuria (IBG)
• Isovaleric acidemia (IVA)
• Malonic acidemia (MAL)
• Methylmalonic acidemia cobalamin disorders (MMA Cbl A,B)
• Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency)
• Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F)
• Propionic acidemia (PROP)

Others

• 22q11.2 Deletion Syndrome
• Autism and autism spectrum disorders
• Classic galactosemia (GALT)
• Cystic fibrosis (CF)
• Duarte galactosemia (DG or D/G galactosemia)
• Fetal alcohol spectrum disorder
• Galactoepimerase (GALE) deficiency
• Galactokinase (GALK) deficiency
• Partial biotinidase (Partial BIOT) deficiency
• Profound biotinidase (BIOT) deficiency
• Severe combined immunodeficiency (SCID)

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If you have questions or comments about this page, please contact Children and Youth with Special Health Needs (CYSHN) at health.cyshn@state.mn.us.