What is a birth defect? pretty sure there is nothing better than brief straight forward information w/o loopy woopy. Birth defects in general simple terms will be discused, then diving a little deeper.. specially the congenital disorders of the skeletal system. I made this presentation as a 'seminar assignment', but then I thought why not sharing the info that I have. *DISCLAIMER: A LOT of the information are from multi sources; My professors, my lectures, internet medical websites, medical textbooks, ..etc. If you find any mistake or a misleading info please do mention it so that everyone takes care and makes sure to get it right!. **If you're a lecturer or a student whom happens to deliver a presentation on the same subject(s) and find mine useful to do the job (WITH CREDIT) then go bunkers!.

1. DefectsBIRTH
E M B R Y O L O G Y LAB.

2. What is a birth defect?
It is a congenital condition; that results in
health problems such as: developmental
disability, physical disability and
intellectual disability.

3. Causes & Risk Factors:
Possible Causes:
1. Genetic or chromosomal
problems.
2. Exposure to certain
medications and/or
chemicals.
3. Certain infections during
pregnancy.
4. Environmental factors.
Risk Factors:
1. Drinking alcohol.
2. Smoking.
3. Poorly controlled
diabetes.
4. Folic acid deficiency.

4. Birth defects types:
STRUCTURAL
Include abnormalities in the
development of body
parts including the
skeleton and organs whilst
in the process of their
formation. They can be
identified at birth.
FUNCTIONAL
Are abnormalities in the
systems that run the
body like the nervous
system, immune system
and endocrine system.
They can take years or
months to identify.

5. Overview of birth defects:
 Congenital skeletal disorders.
 Disorders of the skull.
 Disorders of the vertebral column.
 Disorders of the thoracic cage.
WHAT
NOTIC
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DO
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6. Overview of birth defects:
 Congenital skeletal disorders.
 Disorders of the skull.
 Disorders of the vertebral column.
 Disorders of the thoracic cage.

7. Achondroplasia
A form of dwarfism.
CHARACTERISTICS:
1. Short stature.
2. Abnormal body
proportions.
3. Facial deformities.

9. Gigantism
CHARACTERISTICS:
• Excessive bone
growth.
CAUSE:
• Hypopituitarism.
TREATMENT:
• Inhibiting the
production of GH.

11. Hypopituitarism
CHARACTERISTICS:
1. Delayed skeletal
maturation.
2. Growth failure.
CAUSE:
1. Insufficient production
of GH.
2. Damage to the PG.
TREATMENT:
• Hormone replacement
therapy.

12. Osteogenesis
Imperfecta
• Brittle bone disease.
CHARACTERISTICS:
• Fragile bones prone
to fracturing.
CAUSE:
• Genetic, therefore
cannot be cured.
TREATMENT:
• Restricting activity =
minimize stress on
bone & joints.

13. Overview of birth defects:
 Congenital skeletal disorders.
 Disorders of the skull.
 Disorders of the vertebral column.
 Disorders of the thoracic cage.

15. Cranioschisis
AKA Acrania
CHARACTERISTICS:
1. Cranial vault is
almost absent.
2. Frequently
associated with
anencephaly.
CAUSE:
• Failure of the
neural tube to close
during 4th week.

16. Microcephaly
• Brain fails to
develop.
CHARACTERISTICS:
• Head is smaller
than normal.
CAUSE:
• Failure of the
neural tube to close
during 4th week.

17. Overview of birth defects:
 Congenital skeletal disorders.
 Disorders of the skull.
 Disorders of the vertebral column.
 Disorders of the thoracic cage.

18. Spina bifida
CHARACTERISTICS:
1. Skin over bifid
spine is intact.
2. Dimple or tuft of
hair.
CAUSE:
• Failure of fusion of
vertebral halves of
the vertebral arch.

19. Klippel-Feil
syndrome
• Very rare.
CHARACTERISTICS:
• Extreme shortening
of the neck due to a
reduced number of
cervical vertebrae.
CAUSE:
• The exact underlying
causes and
mechanisms of KFS
are not well
understood

20. Congenital
Scoliosis
CHARACTERISTICS:
• curvature of the spine.
• The spine may also be
rotated or twisted
CAUSE:
1. The bones (vertebrae) in the
spine may not form normally
2. One or more bones in the
spine may be absent
3. Bones may partially form
4. Bones may not be separated
as they should be
TREATMENT:
• Bracing or surgery.

21. Overview of birth defects:
 Congenital skeletal disorders.
 Disorders of the skull.
 Disorders of the vertebral column.
 Disorders of the thoracic cage.

22. Extra ribs
• Cervical or Lumbar.
• Cervical rib is most
common.
CHARACTERISTICS:
1. Pain in your neck
and shoulder, which
spreads into your arm
2. temporary loss of
feeling, weakness in
the affected arm.
RISKS:
• Impinge on the brachial
plexus, resulting in
varying degrees of
anesthesia in the limb.

23. Cleft sternum
• Minor, Major and Large clefts
are observed.
CHARACTERISTICS:
• MINOR:
• Most common, seen as
isolated anomalies.
• MAJOR:
• Associated w/ severe
malformations of the
chest.
• LARGE:
• Rare, associated w/
herniation of thoracic
viscera.

24. Cleidocranial
dysostosis
• Associated w/ skull
defects.
CHARACTERISTICS:
1. Absence of all or part of
the clavicle, usually
bilateral.
2. the shoulders are brought
close together.
CAUSE:
• The condition is either
inherited from a parent or
occurs as a new mutation.
TREATMENT:
• Surgery at 5 years of age.

26. S Y N O P S I S “ 1 ”
Birth defects
=
CONGENITAL
Structural
Functional

27. S Y N O P S I S “ 2 ”
OVERVIEW OF
BIRTH DEFECTS
Congenital
Skeletal Disorders
Achondroplasia
Gigantism
Hypopituitarism
Osteogenesis
Imperfecta
Disorders of the
skull
Microcephaly
Acrania
Disorders of
the V. B.
Spina bifida
Klippel-Feil
syndrome
Congenital
Scoliosis
Disorders of
the T. C.
Extra ribs
Cleidocranial
dysostosis
Cleft sternum

29. Prepared by
2ND STAGE DENTAL STUDENT
FACULTY OF DENTISTRY
HILLA PRIVATE UNIVERSITY COLLEGE

30. QUICK QUIZ!Now, how about testing your memory a little bit?

31. Slides

32. Q1: What’s the name of this disorder?

33. Q2: What’s the name of this disorder?

34. Written

35. ANSWER ANY THREE
Q1: What are the types of birth defects?
Q2: Mention the risk factors for birth defects?
Q3: Two disorders result in dwarfism, what are
they?
Q4: Enumerate the disorders of skull?