Table 3.
Types of congenital anomalies, current medical issues, and other physical features by organ system
| Organ system | Medically significant congenital anomalies | Current medical issues and congenital features |
|---|---|---|
| Ocular | Microphthalmia (1), coloboma (2) | Glaucoma (1), amblyopia (2), lacrimal duct blockage (1), myopia (6), eyes set asymmetrically (2) |
| ENT | Microtia (1), narrowed ear canals (1), cleft lip or palate (1) | Ear pits or tags (2), low-set ears (1), ears set asymmetrically (1), recurrent otitis media (3), tympanostomy tube placement (1), hearing impairment (3), ankyloglossia (1) |
| Cardiac | PDA (12), ASD (10), VSD (12), PFO (2), pulmonary stenosis (1), presence of bilateral superior vena cava (1), dextrocardia (1), noncompaction cardiomyopathy (1), ventricular hypertrophy (1), tetralogy of Fallot (2), aortic coarctation (2), double outlet right ventricle (1), Epstein anomaly (1), hypoplastic left heart (1) | Pulmonary hypertension (4) |
| Pulmonary | Thoracic insufficiency syndrome (1) | Chronic lung disease secondary to prematurity (1), requirement for tracheostomy (1), pulmonary hemorrhage (1), asthma (1), recurrent bronchitis (3), obstructive sleep apnea (1) |
| Gastrointestinal | Imperforate anus (2), gut malrotation (1) | Constipation (8), reflux (4), gastrointestinal bleeding (1), recurrent abdominal pain (1) |
| Genitourinary | Hypospadias (7), horseshoe kidney (1) | Undescended testes (2), curvature of penis (1), incontinence (1) |
| Musculoskeletal | Scoliosis (6), torticollis (2), pectus excavatum (1), fused ribs (1), hip dysplasia (1), vertebral anomalies (2), plagiocephaly (1), hypoplasia of radius or ulna (1), digit hypoplasia (1) | Inguinal hernia (3), single palmar creases (3), leg length discrepancy (4), sacral dimple (1), sandal gap (3), pes planus (1), chronic extremity pain (1) |
| Central nervous system | Optic nerve hypoplasia (2), tethered spinal cord (3) | Decreased strength (1), hypotonia (5), balance problems (1), seizures (2), ADHD (1) |
| Other | Autonomic dysfunction (1), sensory dysfunction (1) |
ADHD, attention-deficit hyperactivity disorder; ASD, atrial septal defect; ENT, ears, nose, and throat; PDA, patent ductus arteriosus; PFO, patent foramen ovale; VSD, ventricular septal defect.