Diseases and Conditions Identified in Children

Most of the health conditions included on this page are either identified birth defects tracked by Children and Youth with Special Health Needs (CYSHN) activities or are conditions that may be included in Longitudinal Follow-up for Newborn Screening Conditions. You will find basic information about many of these health conditions, including a general description 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. For more information about prevalence of birth defects in Minnesota, visit the Minnesota Public Health Data Access Website. For information about newborn screening, visit the Minnesota Department of Health's Newborn Screening Program website.

Amino Acid Disorders

• Argininemia
• Argininosuccinic aciduria (ASA)
• Biopterin defect in cofactor biosynthesis
• Biopterin defect in cofactor regeneration
• Citrullinemia type I and II
• Homocystinuria
• Hypermethioninemia
• Hyperphenylalaninemia
• Maple syrup urine disease (MSUD)
• Phenylketonuria (PKU)
• Tyrosinemia type I, II, and III

Cardiovascular Conditions

• Aortic Valve Stenosis
• Atrial septal defect
• Coarctation of the aorta
• Double outlet right ventricle (DORV)
• Ebstein's anomaly
• Endocardial cushion defect (Atrioventricular Septal Defect or AV Canal)
• Hypoplastic left heart syndrome (HLHS)
• Interrupted aortic arch
• Patent ductus arteriosus
• Pulmonary valve atresia and stenosis
• Single Ventricle
• Tetralogy of Fallot
• Total Anomalous Pulmonary Venus Connection
• Transposition of the great arteries
• Tricuspid valve atresia and stenosis
• Truncus Arteriosus (Common Truncus)
• Ventricular septal defect

Central Nervous System Conditions

• Abnormal cortical gyral patterns
• Anencephalus
• Cerebellar abnormalities
• Corpus callosum abnormalities
• Encephalocele
• Holoprosencephaly (HPE)
• Hydranencephaly
• Hydrocephalus
• Microcephalus
• Porencephaly
• Spina bifida
• Other major brain anomalies

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
• Coloboma
• Congenital cataract
• Other eye abnormalities

Fatty Acid Oxidation Disorders

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

Gastrointestinal Conditions

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

Genitourinary Conditions

• Bladder exstrophy
• Cloacal Exstrophy
• Congenital Posterior Urethral Valves
• Hypospadias
• Obstructive genitourinary defect
• Renal Agenesis / hypoplasia

Hearing

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

Hemoglobin Disorders

• Alpha thalassemia
• S, βeta-thalassemia
• Sickle cell disease (SCD)
• Variant hemoglobinopathies

Lysosomal Storage Disorders

• Krabbe disease
• Mucopolysaccharidosis type I (MPS I)
• Pompe disease

Musculoskeletal Conditions

• Club Foot (includes Talipes Equinovarus)
• Congenital hip dislocation
• Craniosynostosis
• 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-methylbutyryl-CoA dehydrogenase deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-methylglutaconyl-CoA hydratase deficiency (3MGA type I)
• Beta-ketothiolase deficiency
• Glutaric acidemia type l
• Isobutyryl-CoA dehydrogenase deficiency
• Isovaleric acidemia
• Malonic acidemia
• Methylmalonic acidemia (cobalamin disorders A and B)
• Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency)
• Methylmalonic acidemia with homocystinuria
• Multiple CoA carboxylase deficiency
• Propionic acidemia

Others

• 22q11.2 Deletion Syndrome
• Autism spectrum disorder (ASD)
• Biotinidase deficiency
• Cystic fibrosis (CF)
• Cytomegalovirus (CMV) and Congenital CMV
• Fetal alcohol spectrum disorder
• Galactoepimerase deficiency (GALE)
• Galactokinase deficiency (GALK)
• Galactosemia (GALT)
• Neonatal abstinence syndrome (NAS)
• Severe combined immunodeficiency (SCID)
• Spinal muscular atrophy (SMA)
• T-cell lymphopenia
• X-linked adrenoleukodystrophy (X-ALD)