Continuity Clinic Notebook: Birth Defects

Introduction: About 3% of children are born with birth defects. Some of the most common ones are listed below. No matter how common or uncommon, the care of each child with a birth defect needs to be coordinated by a pediatrician. Therapy can include surgeons, psychologists for child and family, infant stimulation specialists, physical and occupational therapists, subspecialists, and school teachers.

I. Single Birth Defects: malformations, deformations, and disruption such as amniotic bands

II. Multiple Malformation Syndromes: most common Down syndrome, Klinefelters; others all < 1:3000.

Name of Condition	Frequency	Prevention	Treatment
Congenital Heart Disease	1:110		Surgery if necessary Most common lethal condition
Pyloric Stenosis	1:250		Surgery
Developmental Dysplasia of the Hip	2:1000		Pavlik Harness Surgery
Sickle Cell Anemia	1:400	Genetic counseling	Medical treatment
Cleft lip\cleft palate	1:730		Surgery
Clubfoot	1:735		Surgery
Down Syndrome	1:900	Genetic counseling Prenatal dx and abortion
Fetal Alcohol Syndrome	1:1000	no drinking during pregnancy	treat associated problems such as ADHD
Hearing Impairment	2-3:1000		early diagnosis and speech
Spina Bifida	1:2000	folic acid supplement in all women of child-bearing age (400 ug/d)	surgical and medical
Cystic Fibrosis	1:2000	Genetic counseling	Medical
Fragile X syndrome	1:2000		educational placement
Anencephaly	1:8000

Medical College of Georgia
Department of Pediatrics A-Z Index MCG Home
Continuity Clinic Notebook:	Chapter 1: The Prenatal and Well Child Visit

Birth Defects - Frequency and Treatment