Sequence

What is a Sequence?

A sequence is one or more secondary morphologic anomalies known or presumed to cascade from a single malformation, disruption, dysplasia, or deformation. The classic example of a sequence is Potter’s syndrome aka oligohydramnios sequence.
Dysplasia

What is Dysplasia?

Dysplasia is a prenatal or postnatal morphologic anomaly caused by dynamic or ongoing alteration of cellular constitution, tissue function, or tissue organization within a specific organ or a specific tissue type. Examples of dysplasia include: AchondrogenesisHip dysplasiaMulticystic dysplastic kidneyMyelodysplastic syndromeThanatophoric…
Deformation

What is a Deformation?

A deformation is an altered shape or position of a body part due to aberrant mechanical force that distorts an otherwise normal structure. Examples of deformations include: ArthrogryposisCraniofacial asymmetryErb’s palsyKlumpke’s palsyTalipes
Disruption

What is a Disruption?

A disruption is a non-progressive, congenital morphologic anomaly due to the breakdown of a body structure that had a normal developmental potential. Examples of disruptions include: Facial cleftsMissing digitsMissing limbs
Malformation

What is a Malformation?

A malformation is a non-progressive, congenital morphologic anomaly of a single organ or body part due to an alteration of the primary developmental program. Examples of malformations include: Cleft lipCleft palateCongenital heart defectNeural tube defectsSpina bifida
Teratogens

What are Teratogens?

Teratogens are substances that may cause an abnormality following fetal exposure to the teratogen during pregnancy. The first half of pregnancy is the most vulnerable period to teratogens. The types or severity of abnormalities caused by a teratogenic agent depends…
Congenital Anomalies

What Causes Congenital Anomalies?

Congenital anomalies may be be caused by genetic factors, environmental factors, or a combination of the two (multifactorial). Examples of genetic anomalies include: Down syndromeTurner syndromeKlinefelter syndrome Examples of environmental anomalies include: RubellaThalidomideAlcohol use during pregnancy Examples of multifactorial anomalies…
Congenital Anomalies

What are Congenital Anomalies?

Congenital anomalies are anatomic defects that are present at birth. Congenital anomalies are the most common cause of mortality in the first year of life.
DISEASES OF YOUNG CHILDREN

WHAT ARE DISEASES OF YOUNG CHILDREN?

Diseases of young children include any abnormal conditions that primarily affects infants and children, or those in the age span between fetus and adolescent. Examples of diseases of young children include: Congenital anomaliesPrematurityFetal growth restrictionPerinatal infectionsFetal hydropsInborn errors of metabolismGenetic…
Metastatic Tumors

What are Metastatic Tumors?

Metastatic tumors are tumors that spread to other parts of the body. Metastatic tumors that affect the central nervous system are typically carcinomas, but may originate from many different malignancies.