Birth defects, also known as congenital malformations, are structural, functional or metabolic disorders that are present at birth. They can be caused by genetic or environmental factors and occur during critical periods of development. The document categorizes birth defects into malformations, disruptions, deformations, and chromosomal aberrations. It provides examples of specific birth defects like spina bifida, phocomelia, anencephaly, and cleft palate. Causes of birth defects discussed include chemicals, infections, radiation, heavy metals and genetic factors.

1. BIRTH DEFECTS
By -
Faisal Khan
MBBS Batch 2017-18

2. CONTENTS
 WHAT IS BIRTH DEFECT
 TYPES
 CAUSES
 VARIOUS DISEASES AND DISORDERS
 BIBLIOGRAPHY

3. Birth defect , congenital malformation and
congenital anomaly are terms used to describe
structural , behavioural , functional, and metabolic
disorders present at birth.
WHAT IS BIRTH DEFECT ?

4. TYPES OF BIRTH
DEFECTS
 MALFORMATIONS
 DISRUPTIONS
 DEFORMATIONS
 CHROMOSOMALABERRATIONS

5. MALFORMATIONS
 Occur during formation of structures, for example ,
during organogenesis.
 Caused by environmental and / or genetic factors .
 Most malformations originates during the 3rd to 8th
weeks of gestation.

6. DISRUPTIONS
 Results in morphological alterations of already formed
structures and are caused by destructive processes.
 Vascular accidents leading to bowel atresias is an
example of destructive factors that produce
disruptions.

7. DEFORMATIONS
 Results from mechanical forces that mold a part of the
foetus over a prolonged period.
 Clubfeet , for example are caused by compression in the
amniotic cavity .

8. CHROMOSOMAL
ABERRATIONS
It is a missing , extra , or irregular portion or
rearrangement of a portion of chromosomal DNA.

9. CAUSES OF BIRTH
DEFECTS
 Environmental factors
 Chemical Agents
 Infectious Agents
 Radiations
 Heavy Metals

10. SPINA BIFIDA
 Developmental congenital disorder
caused by incomplete closing of
embryonic neural tube.
 If the opening is large enough the spinal
cord emerges through the bone .

11. PHOCOMELIA
 A rare congenital
deformity in which
limbs are grossly
underdeveloped or
absent.
 It is due to side effect
of drug thalidomide
taken during early
pregnancy.

13. ANENCEPHALY
Cephalic disorder characterised by absence of major
portion of brain, skull , and scalp that occurs during
embryonic development

14. CLEFT PALATE
 Orofacial cleft is a condition which is a split or opening
in the roof of the mouth.
 Also accompanied by cleft lip which may extend into
the nose.

15. BIBLIOGRAPHY
 HAMILTON – BOYD TEXTBOOK
 LANGMAN’S MEDICAL EMBRYOLOGY
TEXTBOOK
 TEXTBOOK OF CLINICAL EMBRYOLOGY
BY VISHRAM SINGH
 INDERBIR SINGH’S HUMAN EMBRYOLOGY
TEXTBOOK
 GOOGLE IMAGES