Health Conditions and Birth Defects Fact Sheets
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Birth Defects
Newborn Screening Conditions / Disorders
Cardiac Conditions
- Atrial Septal Defect
- Coarctation of the Aorta
- Common Truncus
- Ebstein's Anomaly
- Endocardial Cushion Defect
- Hypoplastic Left Heart Syndrome
- Patent Ductus Arteriosus
- Pulmonary Valve Atresia and Stenosis
- Transposition of the Great Arteries
- Tricuspid Valve Atresia and Stenosis
- Ventricular Septal Defect
Central Nervous System Conditions
Chromosome Conditions
Ear Conditions
Eye Conditions
Gastrointestinal Conditions
- Biliary Atresia
- Esophaegeal Atresia
- Hirschsprung's Disease
- Pyloric Stenosis
- Rectal and Large Intestinal Atresia / Stenosis
Genitourinary Conditions
Muscular Skeletal Conditions
- Congenital Hip Dislocation
- Diaphragmatic Hernia
- Gastroschisis
- Omphalocele
- Reduction Deformity: Lower Limbs
- Reduction Deformity: Upper Limbs
Oral Conditions
Other Health Conditions
Amino Acid Disorders
- Argininemia (ARG)
- Argininosuccinate Acidemia (ASA)
- Citrullinemia Type I (CIT-1)
- Homocystinuria / Cystathionione beta-synthase Deficiency (HCY / CBS)
- Maple Syrup Urine Disease (MSUD)
- Phenylkatonuria (PKU)
- Tyrosinemia - Type I (TYR-I)
Endocrine Disorders
Fatty Acid Oxidation Disorders
- Carnitine Uptake/Transport Deficiency (CUD/CTD)
- Carnitine / Acylcarnitine Translocase Deficiency (CAC / CAT / CACT)
- Carnitine Palmitoyl Transferase Deficiency-Type 1
- Carnitine Palmitoyl Transferase Deficiency-Type 2
- Glutaric Acidemia-Type 2 (GA2)
- Long-chain hydroxyacyl-CoA dehydrogenase Deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase Deficiency (MCAD)
- Short-chain acyl-CoA dehydrogenase Deficiency (SCAD)
- Short Chain 3-hdroxyacyl-CoA Dehydrogenase Deficiency (SCHADD)
- Trifunctional Protein Deficiency (TFP)
- Very long-chain acyl-CoA dehydrogenase Deficiency (VLCAD)
Hearing
Organic Acid Disorders
- 2-Methylbutyryl-CoA dehydrogenase Deficiency (SBCAD)
- 3-Methylcrotonyl-CoA carboxylase Deficiency (3-MCC)
- 3-hydroxy-3-methylglutaryl-CoA lyase Deficiency (HMGCoA)
- Beta-Ketothiolase Deficiency (BKD)
- Glutaric Acidemia-Type 1 (GA1)
- Glutaric Acidemia-Type 2 (GA2)
- Isobutyryl-CoA Dehydrogenase Deficiency (IBD)
- Isovaleric Acidemia (IVA)
- Methylmalonic Acidemia (MMA)
Other

