Diseases and Conditions Identified in Children
Most of the health conditions included on this page are either identified birth defects tracked by CYSHN activities or are conditions that may be included in Newborn and Child Follow-up Unit activities. 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
Amino Acid Disorders
- Argininemia (ARG)
- Argininosuccinate aciduria (ASA)
- Biopterin defect in cofactor biosynthesis (BIOPT-BS)
- Biopterin defect in cofactor regeneration (BIOPT-REG)
- Citrullinemia type I
- Citrullinemia type II (CIT II)
- Homocystinuria (HCY)
- Hypermethioninemia (MET)
- Hyperphenylalaninemia (H-PHE)
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Tyrosinemia type I (TYR-I)
- Tyrosinemia type II (TYR-II)
- Tyrosinemia type III (TYR-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
Ear Conditions
Endocrine Disorders
Eye Conditions
- Aniridia
- Anophthalmia and microphthalmia
- Coloboma
- Congenital cataract
- Other eye abnormalities
Fatty Acid Oxidation Disorders
- 2,4 Dienoyl-CoA reductase deficiency (DE RED)
- Carnitine acylcarnitine translocase deficiency (CACT)
- Carnitine palmitoyltransferase type I deficiency (CPT-IA)
- Carnitine palmitoyltransferase type II deficiency (CPT-II)
- Carnitine uptake defect (CUD)
- Glutaric acidemia type II (GA-2)
- Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
- Medium/short-chain L-3-hydroxyacyl-CoA dehydroganase 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
- Pyloric stenosis
- 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)
Hemoglobinopathies
- Sickle cell disease (SCD)
- S-βeta thalassemia
- Variant hemoglobinopathies
Lysosomal Disorders
- 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
Organic Acid Disorders
- 2-methyl-3-hydroxybutyric acidemia (2M3HBA)
- 2-methylbutyrylglycinuria (2MBG)
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-methylcrotonyl-CoA carboxylase Deficiency (3-MCC)
- 3-methylglutaconic aciduria (3MGA) - 3-methylglutaconyl-CoA hydratase deficiency
- Beta-ketothiolase deficiency (BKT)
- Glutaric acidemia type 1 (GA-1)
- Holocarboxylase synthetase deficiency (also known as early-onset multiple carboxylase deficiency)
- Isobutyrylglycinuria (IBG)
- Isovaleric acidemia (IVA)
- Malonic acidemia (MAL)
- Methylmalonic acidemia (Cobalamin disorders)
- Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency)
- Methylmalonic acidemia with homocystinuria
- Propionic acidemia (PROP)
Others
- 22q11.2 Deletion Syndrome
- Autism spectrum disorder (ASD)
- Biotinidase deficiency (BIOT)
- Classic galactosemia (GALT)
- Cystic fibrosis (CF)
- Fetal alcohol spectrum disorder
- Galactoepimerase deficiency (GALE)
- Galactokinase deficiency (GALK)
- Severe combined immunodeficiency (SCID)
- Spinal muscular atrophy (SMA)
- X-linked adrenoleukodystrophy (X-ALD)
