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Congenital Anomalies: Types and Causes

Congenital anomalies, also known as birth defects, are structural, functional, or metabolic disorders that are present at birth. They can be caused by genetic factors like single-gene or chromosomal disorders, or environmental factors like drugs, chemicals, infections, and radiation exposure during pregnancy. Common birth defects include neural tube defects, congenital heart defects, cleft lip and palate, limb abnormalities, and Down syndrome. Precise causes are unknown in many cases but avoiding teratogenic exposures, maintaining health during pregnancy, and accessing prenatal care can help reduce risks.

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354 views45 pages

Congenital Anomalies: Types and Causes

Congenital anomalies, also known as birth defects, are structural, functional, or metabolic disorders that are present at birth. They can be caused by genetic factors like single-gene or chromosomal disorders, or environmental factors like drugs, chemicals, infections, and radiation exposure during pregnancy. Common birth defects include neural tube defects, congenital heart defects, cleft lip and palate, limb abnormalities, and Down syndrome. Precise causes are unknown in many cases but avoiding teratogenic exposures, maintaining health during pregnancy, and accessing prenatal care can help reduce risks.

Uploaded by

Saad Abdullah
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We take content rights seriously. If you suspect this is your content, claim it here.
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CONGENITAL

MALFORMATIONS

Dr. Wajid Hussain Barki


PROFESSOR and HoD
Anatomy Department (CIMS)
CONGENITAL ANOMALIES
are defined as:
o Structural
o Functional
o Behavioral, and
o Metabolic
disorders present at birth.
TERATOLOGY

It is that branch of medical science


which deals with:
1. the study of congenital anomalies
2. the causative factors
3. the mechanism of abnormal prenatal
development.
INCIDENCE

o Major Congenital Anomalies: 2-4%


o Minor Congenital Anomalies: 10%
of live births.

much higher in the early embryos


FUNDAMENTAL
DEVELOPMENTAL
PROCESSES

1. GROWTH
2. MORPHOGENESIS
3. DIFFERENCIATION
TYPES OF ABNORMALITIES
Malformations
• Alteration or absence of a structure during developmental
process e.g Amelia. Mostly occur during 3-8 week of IUL

Deformations
• Abnormality resulting due to the action of mechanical force
for a prolonged period over a normally developed structure
e.g., club foot (Telepez equinovarus). .

Disruptions
• Destructive processes during the prenatal development which
lead to morphological alterations in the already formed fetal
structures. e.g. limb amputations caused by amniotic band,
intestinal atresias produced by fetal vascular accidents.
CLASSIFICATION OF
MALFORMATIONS
1. Failure of development (Agenesis)
a. Organic developmental failure e.g. kidney
b. Cellular developmental failure e.g. ganglion cells
of the colon.
2. Incomplete development
a. Incomplete growth e.g. Microphthalmia, dwarfism
b. Incomplete union e.g. cleft palate, double uterus
c. Incomplete subdivision e.g. of heart chambers
d. Incomplete migration e.g. undescended testes
3. Developmental Excess
a. Excessive growth e.g. macroglossia
b. Increased number e.g. supernumerary
digits

4. Misplacements
e.g. palatine teeth, ectopic testis
5. Persistence of temporary structures
e.g. Meckel’s diverticulum, thyroglossal cyst,
anal membrane

6. Heterotropia
e.g. presence of gastric mucosa in
Meckel’s diverticulum, endometriosis
CAUSES OF BIRTH DEFECTS

Unknown etiology

Multifactorial inheritance

Chromosomal aberration

Mutant genes

Environmental agents
CAUSES

A. GENETIC DISORDERS
1. Single-Gene Disorders.
2. Chromosomal Aberrations.

B. ENVIRONMENTAL FACTORS
1. Drugs and Chemicals
2. Infectious agents
3. Radiation
4. Maternal Conditions
GENETIC
DISORDERS
1. Single-Gene Defects

a. Autosomal dominent disorders:


i. achondroplasia (a type of dwarfism)
ii. Polydactyly (extra digits)

b. Autosomal recessive disorders:


i. albinism
ii. Microcephaly.

c. X-linked recessive disorders:


i. hemophilia
ii. Pseudohypertrophic muscular
dystrophy
Achondroplasia

Features:
Short stature,
short limbs and figures,
bowed legs,
prominent large
forehead,
depressed nasal bridge,
Manifestations and
disorders of single
gene defects

Polydactly
 Albinism
 Microcephaly
 Pseudohypertrophic
Muscular dystrophy
2. Chromosomal Aberration
a. Numerical Aberration:
i. Aneuploidy
Monosomy Trisomy
Turner syndrome (XO) Down syndrome (trisomy 21)
X-chromosome monosomy Edward syndrome (trisomy 18)
Patau syndrome (trisomy 13)

Klinefelter syndrome (XXY),


Triple X syndrome (XXX)
ii. Polyploidy
Triploidy (69 chromosomes) Tetraploidy (92 chromosomes)
Down syndrome
(Trisomy 21)
Features:
Turner Syndrome • Mental deficiency
• Slanting palpebral fissures,
Features: • Epicanthal fold,
• Short stature, • Flat nasal bridge,
• Webbed neck, • Protruding tongue
• Absence of sexual maturation, • Single, transverse palmar flexion
• Crease (simian crease),
• Broad chest,
• Incurving of the 5th digit (Clinodactly)
• Widely space nipples,
2. Chromosomal Aberration
b. Structural Aberration:
Deletion
i. Deletion.
Duplication
ii. Duplication.
Inversion
iii. Inversion.

iv. Translocation. Translocation


C. Chromosomal Mosaicism:

i. Turner syndrome mosaic


ii. Trisomy 21 mosaicism
ENVIRONMENTAL
FACTORS
1. Drugs and Chemicals

a. Medicines

i. Anticonvulsant drugs e.g. phenytoin,


trimethadione, valproic acid.
Features:
 Growth retardation,
 Hypoplasia of nails
 Hypoplasia of distal phalanges
 Craniofacial abnormalities
especially facial clefts. Cleft Lip
ii. Analgesics e.g. acetylsalicylic acid
Large doses damage the liver.
iii. Antibiotics e.g. tetracyclines, streptomycin
Features: Cross the placental barrier and are deposited
at the sites of active calcifaction. e.g. yellow staining of
Teeth, pitting of enamel, diminished growth of long bones.
Dental
Staining

Dental
pearl
iv. Tranquilizers e.g. thalidomide, benzodiazepines
Thalidomide is the most notorious teratogen.
Features:
 Meromelia,
 Amelia
 Cleft lip with or without cleft palate.
Today most commonly used tranzuilizers
and anxiolytic belong to benzodiazepine
group e.g. diazepam which can cause
cleft lip with or without cleft palate.
Meromelia
v. Antipsychotic Drugs e.g. Phenothiazine
(largactil)

Features:
Malformations of heart and great vessels have
been reported in women who took medicines
in early pregnancy.
vi. Anticoagulants e.g. Warfarin Sodium

Can cause:
 Nasal hypoplasias
 Optic atrophy
 Microcephaly
 Mental retardation
Microcephaly
vii. ACE inhibitors commonly used as one of the
antihypertensive agents.

Leads to:
 Intrauterine growth retardation (IUGR)
 Renal dysfunction
 Hypoplasia of skull vault bones
 Oligohydramnios
 Sometimes fetal death
viii. Cytotoxic drugs used in the treatment of cancer
 They kill or incapacitate the rapidly dividing cells.
 Most drugs prevent DNA synthesis during the S-phase
of cell cycle.

Administration during the 1st trimester of gestation causes:


 Death of the embryo
 Abortion
Survivors may present with:
 IUGR
 Meningomyelocele
 Hydrocephalus
ix. Vitamin A
Vitamin A and its derivatives like isotretenoin are
commonly used for the treatment of acne and other
skin disorders.

Can present as:


 Hydrocephlus
 Microtia (small ears)
 Micrognathia
 Cleft palate
 Cardiac anomalies
x. Hormones

 Cortisone
 Synthetic Progestins
 Oral contraceptives
 Diethylstilbestrol (DES)
Cortisones is a weak teratogen in humans. In mice it
produces cleft palate.

Synthetic Progestins are used to prevent


spontaneous abortions, have musculinizing effect on
external genitalia of female embryos.

Oral contraceptives contains estrogens and have


harmful effects in early unrecognized pregnancies.

Diethylstilbestrol (DES) used for the treatment of


reproductive dysfunction in female leads to anomalies of
uterine tubes, uterus and vagina. In boys malformation
of testes and defectives spermatogenesis is observed.
b. Social Drugs

i. Alcohol
Fetal Alcohol Syndrome
ii. Nicotine
iii. Cocain
Alcohol may lead to fetal alcohol
Syndrome which includes:
 IUGR,
 Microcephaly,
 Mental deficiency,
Facial Features:
 Heart defects, Short palpebral fissures
 Limb abnormalities and Flat Nose
Maxillary hypoplasia
 Typical facial appearance. Indistinct philtrum
Micrognathia
Smoking during pregnancy may lead to:
 IUGR
 High infant mortality

Cocain users give birth to babies presenting


with:
 IUGR
 Microcephaly
 Urogenital and behavioral anomalies
c. Environmental Chemicals

e.g. Methylmercury (fungicide)

May lead to:


 Brain damage
 Neurological disorders like cerebral palsy
 Microcephaly
 Mental retardation
 Blindness
2. Infectious Agents
a. Viral Infections
i. Rubella virus
ii. Cytomegalo virus
iii. Chickenpox
iv. Human Immunodeficiency Virus (HIV)
e.g. AIDS
b. Bacterial Infections.
i. Maternal Syphilis
c. Parasitic Infections
i. Toxoplasmosis
a. Viral Infections

Rubella virus leads to german measles cause


15-20% malformations in 1st trimester.

Usual triad of anomalies is:


 cataract
 deafness
 cardiac defects.
Congenital cataract
Cytomegalo virus may lead to:
 Death
 Abortion of conceptus
 Sometimes IUGR
 Micro-ophthalmia and blindness
 Deafness
 Microcephaly.

Maternal Chickenpox may cause:


 Muscle atrophy
 Skin scarring
 Mental retardation.
Human Immunodeficiency Virus (HIV) leads to Acquired
Immune Deficiency Syndrome (AIDS).
It can cause Microcephaly, IUGR.
b. Bacterial Infections
Maternal Syphilis can cross the placental barrier after
20th week of gestation.
Leads to congenital syphilis of the neonate.

Features of congenital syphilis:


 Deafness
 Abnormal teeth
 Hydrocephalus
 Mental retardation
c. Parasitic Infections
Toxoplasmosis is caused by toxoplasmagondii which is
capable of crossing the placental barrier.
Particularly affects the:
Developing brain
Eyes with micro-ophthelmia
Microcephaly
Hydrocephalus
3. Radiation
a. X-rays
b. Gamma-rays

Birth defects depends on:


1. Dose of the radiation
2. Stage of the fetal development at the time of exposure

Exposure to large doses may lead to:


 Death of the embryo
 Spina bifida
 Cleft palate
 Microcephaly
 Mental retardation
4. Maternal Conditions
a. Maternal Diabetes
b. Maternal Hyperthermia
c. Maternal Malnutrition

Maternal diabetes may leads to:


 Cardiovascular malformations
 Skeletal system malformation

Maternal hyperthermia may affect:


 Developing brain
 Developing eyes
Maternal malnutrition due to nutritional deficiencies have
teratogenic effects.
Follic acid deficiency can cause:
 Neural tube defects like spina bifida, exencephaly.
Iodine deficiency (in maternal diet) may lead to cretinism
which represents with:
 Growth retardation
 Mental retardation
 Short and broad hands
 Short fingers.
PRENATAL DIAGNOSIS
1. ULTRASONOGRAPHY
 Crown Rump Length
 Biparietal Diameter
 Femur Length
 Abdominal Circumference

2. MATERNAL SCREENING
 alpha Fetoproteins
 Human Chorionic Gonadotropin (HCG)
3. AMNIOCENTESIS
 alpha Fetoproteins
 Cells for Genetic Analysis

4. CHORIONIC VILLUS SAMPLING


FETAL THERAPY AND MANAGMENT

1. FETAL MEDICAL THERAPY


 Follic acid supplements
 Iodine supplements

2. FETAL TRANSFUSION

3. FETAL SURGERY

4. STEM CELL TRANSPLANTATION

5. GENE THERAPY

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