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4 Congenital Anomalies - Definitions | CDC
Birth Defects Surveillance Toolkit
1.4 Congenital Anomalies - Definitions
Table of Contents
Chapter 1: Surveillance of Congenital Anomalies
1.1 Introduction
1.2 The Purpose of Congenital Anomalies Surveillance
1.3 Types of Surveillance Programmes
1.4 Congenital Anomalies - Definitions
Congenital anomalies comprise a wide range of abnormalities of body structure or function that are present at birth and are of prenatal origin. For efficiency and practicality, the focus is
commonly on major structural anomalies. These are defined as structural changes that have significant medical, social or cosmetic consequences for the affected individual, and typically
require medical intervention. Examples include cleft lip and spina bifida.
Major structural anomalies are the conditions that account for most of the deaths, morbidity and disability related to congenital anomalies (see Box 1.1 for a list of selected external and
internal major congenital anomalies). In contrast, minor congenital anomalies, although more prevalent among the population, are structural changes that pose no significant health problem
in the neonatal period and tend to have limited social or cosmetic consequences for the affected individual. Examples include single palmar crease and clinodactyly.
Box 1.1. Selected major congenital anomalies
External Internal
Neural tube defects Congenital heart defects
Anencephaly Hypoplastic left heart syndrome
Craniorachischisis Common truncus
Iniencephaly Interrupted aortic arch
Encephalocele Transposition of great arteries
Spina bifida Tetralogy of Fallot
Pulmonary valve atresia
Microcephaly
Tricuspid valve atresia
Microtia/Anotia
Orofacial clefts Esophageal atresia/tracheoesophageal fistula
Cleft lip only Large intestinal atresia/stenosis
Cleft palate only Anorectal atresia/stenosis
Cleft lip and palate Renal agenesis/hypoplasia
Exomphalos (omphalocele)
Gastroschisis
Hypospadias
Reduction defects of upper and lower limbs
Talipes equinovarus/club foot
Chromosomal
Trisomy 21 (Down syndrome)
Major anomalies are sometimes associated with minor anomalies, which might be objective (e.g. preauricular tags) or more subjective (e.g. low-set ears). Box 1.2 represents selected external
minor congenital anomalies frequently captured by different surveillance systems, but only when associated with any of the major anomalies under surveillance. For a more detailed listing of
minor anomalies, please refer to Appendix B. Often, surveillance systems will collect information on specific syndromes that are multiple anomalies pathogenetically related due to a single
cause – for example, genetic or environmental causes that are known to cause birth defects. Certain syndromes caused by infectious diseases are of special interest in many low- and middle-
income countries . For a detailed listing of selected syndromes of infectious origin that are of public health significance, please refer to Appendix B.
When establishing a new congenital anomalies surveillance programme, the initial anomalies that are included can be limited to structural anomalies that are readily identifiable and easily
recognized on physical examination at birth or shortly after birth. The list may vary, depending on the capacity and resources of the health-care system and surveillance programme, but
typically includes major external congenital anomalies. Examples include:
orofacial clefts,
neural tube defects, and
limb deficiencies.
In contrast, detecting the vast majority of internal structural anomalies (e.g. congenital heart defects, intestinal malrotation and unilateral kidney agenesis) requires imaging techniques or
other specialized procedures that may not be available consistently. In some cases, internal anomalies have external manifestations that allow the observer to suspect a particular diagnosis,
as is the case with the urethral obstruction sequence. Similar to collecting information on internal defects, collecting information on syndromes often requires gathering data from multiple
sources such as laboratory, imaging or genetic testing. Therefore, collecting surveillance data on internal defects and syndromes is typically not recommended when first starting a
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10/21/23, 10:44 AM 1.4 Congenital Anomalies - Definitions | CDC
surveillance programme.
Classification by developmental mechanism or clinical presentation can be important in surveillance, because the same congenital anomaly can have different etiologies. Futhermore, the
distinction may be important both clinically and in etiological studies. Please refer to Appendix C for more information about the causes of congenital anomalies and their classification
according to developmental mechanism and clinical presentation.
Box 1.2. Selected external minor congenital anomalies
Absent nails Lop ear
Accessory tragus Micrognathia
Anterior anus (ectopic anus) Natal teeth
Auricular tag or pit Overlapping digits
Bifid uvula or cleft uvula Plagiocephaly
Branchial tag or pit Polydactyly type B tag, involves hand and foot
Camptodactyly Preauricular appendage, tag or lobule
Cup ear Redundant neck folds
Cutis aplasia (if large, this is a major anomaly) Rocker-bottom feet
Ear lobe crease Single crease, fifth finger
Ear lobe notch Single transverse palmar crease
Ear pit or tag Single umbilical artery
Extra nipples (supernumerary nipples) Small penis (unless documented as micropenis)
Facial asymmetry Syndactyly involving second and third toes
Hydrocele Tongue-tie (ankyloglossia)
Hypoplastic fingernails Umbilical hernia
Hypoplastic toenails Undescended testicle
Iris coloboma Webbed neck (pterygium colli)
2. Planning Activities and Tools
Page last reviewed: November 19, 2020
Content source: Division of Birth Defects and Developmental Disabilities, NCBDDD, Centers for Disease Control and Prevention
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