EMBRYOLOGY:

TERATOLOGY
 Teratology

The science that studies the causes of structural, functional,

behavioral & metabolic disorders present at birth:
- size,
- arrangement or
- composition of any organ or part of the body.
 Principles of teratology

• Susceptibility to teratogenesis depends on the genotype of the

fetus & mother.
• Susceptibility to teratogens varies with the developmental
stage at the time of exposure. The most sensitive period for
inducing birth defects is the 3rd – 8th weeks of gestation, the
period of embryogenesis or organogenesis.
• Manifestations of abnormal development depend on dose
and duration of exposure to a teratogen.
• Teratogens act in specific ways on developing cells & tissues to
initiate abnormal embryogenesis.
Teratology
 Types of anomalies
• Visible deviations of structure
• Non-visible deviation or deviations of function
• occurring as a result of enzyme deficiency which result in
abnormal chemical functions called ‘inborn errors of
metabolism’ involving protein, carbohydrates, lipids &
pigments.
• Anomalies existing at birth or long before birth – such are called
congenital anomalies.
 Incidence

• The incidence of congenital anomalies vary with race & also

in different populations of the same race.
• Some anomalies are more common in males such as pyloric
stenosis, cleft lip & hydrocephalus; and some anomalies are
more common in females such as congenital dislocation of
the hip, birth marks, anomalies of brain and spinal cord.
 Teratology

Frequency of congenital anomalies

a) Muscular-skeletal - 38 %
b) Integumentary - 20 %
c) CNS - 14 %
d) GIT -9%
e) Genito-urinary - 9%
f) Respiratory -2%
 Classification of anomalies
(1) Failure of development: Agenesis
- an organ or body part may be subjected to developmental
failure
(1) Failure of development: Agenesis

Scrotum agenesis
(2) Incomplete development
- In growth: dwarfism, gigantism
- In union: cleft palate, double uterus
-In subdivisions: heart chambers, body cavities, double ureters,
multiple kidneys, double gall bladders
- In metabolism: sickle cell anaemia
- In histological differentiation: thickened skin, stenosis
- In number: multiple digits, multiple nipples, twinning
 (2) Incomplete development

Gigantism & dwarfism Multiple breast syndrome

(3)Embryonic persistence - any embryonic structure which
persist instead of disappearing

- Meckel’s diverticulum
- cervical cyst
- thyroglossal cyst
(3) Embryonic persistence
- Meckel’s diverticulum
(4) Misplacements – ectopic thyroid, ectopic
pregnancy, ectopic testes
(4) Misplacements –
- ectopic thyroid
Classification of anomalies

The modern view on anomalies is based on two causal factors:-

1. Hereditary
2. Environment
1. Hereditary
(1)Genes
– autosomal (dominant or recessive); X-linked (dominant or recessive)
(2)Chromosomes
- Non-disjunction (failure of chromosome pairs / chromatids to separate
properly during cell division.
- Eg: Turner’s syndrome (X monosomy) (45, X0) & Down’s syndrome
(Trisomy 21)
2. Environment or teratogenic agents
- Environmental factors cause 7 to10 % of congenital
anomalies.
(1)Physical : external traumatic injuries
(2)Irradiation: X rays or atomic explosions
(3)Chemical agents:
Drugs (thalidomide, anti-convulsants,) Alcohol
(alcohol fetal syndrome)
2. Environment or teratogenic agents
(4)Hormones: thyroxine, diabetic mothers
(5)Heavy metals:
Mercury (mental retardation)
Lead (increased abortion, fetal anomalies, functional deficit
etc)
(6)Growth inhibitors: nitrogen mustard
(7)Vitamin deficiency
2. Environmentor teratogenic agents
(8)Infectious agents: German measles, cytomegalovirus, syphilis,
HIV, herpes simplex
(9)Antigens: Rh factor in mother can pass through the placenta to the
foetus and produce malformed fetal blood cells
(10)Cigarette smoking: intra-uterine growth retardation (small infants)
Amelia Polydactyly

Meromelia

Down’s Syndrome
Holoprosencephaly Cleft lip
Caudal dysgenesis

Anencephaly