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MULTIFACTORIAL INHERITANCE
CONGENITAL MALFORMATIONS- CLEFT
LIP AND PALATE

BY:
NEHA JOHNSON
1840644
6 BCZ
What is Multifactorial Inheritance? 2

 Some disorders are

caused by mutations in a
single gene.
 Other disorders have more
complex inheritance.
 Many medical problems
do not have a single
genetic cause, but are
likely associated with the
effect of multiple genes in
combination with
environmental factors.
What is Multifactorial Inheritance? 3

 Multifactorial inheritance refers to disorders caused by multiple

genes and environmental factors.
 They are determined by the additive effects of many genes at
different loci together with the effect of environmental factors.
 This group of disorders includes a broad range of medical
(cardiac disease and diabetes), congenital (birth defects
including cardiac malformations, neural tube defects, and
cleft lip and/or palate), and neuropsychiatric (ASD,
schizophrenia, bipolar disorder) diseases.
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What are Congenital malformations? 5

 Congenital malformations can

be defined as structural or
functional anomalies that
occur during intrauterine life.
 Also called birth defects,
congenital disorders, or
congenital anomalies, these
conditions develop prenatally
and may be identified before
or at birth, or later in life.
What are Congenital malformations? 6

 An estimated 6% of babies
worldwide are born with a
congenital anomaly, resulting in
hundreds of thousands of
associated deaths.
 Some congenital anomalies can
be treated with surgical and
non-surgical options, such as
cleft lip and palate, clubfoot,
and hernias. Others, including
heart defects, neural tube
defects, and down syndrome,
can cause lifelong impacts.
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What causes Congenital malformations?
 Approximately 50% of congenital anomalies cannot be
linked to a specific cause.
 However, known causes include single gene defects,
chromosomal disorders, multifactorial inheritance,
environmental teratogens and micronutrient deficiencies.
 Consanguinity – when parents are related by blood –
increases the risk of congenital anomalies and nearly
doubles the risk of neonatal and early childhood death,
intellectual disability and other health conditions.
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Cleft lip
Spina Bifida

Down’s syndrome
Club foot
Cleft lip and Palate 9

 The dictionary meaning of cleft is a crack, fissure,split or

gap.
 Cleft lip and palate is a congenital birth defect which is
characterized by complete or partial cleft of lip and/or
palate.
 Not life threatening unless associated with other syndrome.
 Severity may vary from trace of notching of upper lip to
complete non fusion of lip, primary palate and secondary
palate.
Cleft lip and Palate- Incidence 10

 The approximate incidence is 1

in 700 live births, among them
25% are bilateral and 85% are
associated with cleft palate.
 Isolated cleft palate occurs in 1
in 2000 live births .
 Cleft lip is more common
among males and cleft palate
is more common among
females.
Forms of Cleft Lip 11

 Incomplete unilateral cleft lip

A cleft on one side of the upper lip,
which does not extend into the nose.
 Complete unilateral cleft lip
A cleft on one side of the upper lip,
which extends into the nose.
 Incomplete bilateral cleft lip
Clefts on both sides of the upper lip, not
extending to the nose.
 Complete bilateral cleft lip
Clefts on both sides of the upper lip,
extending into the nose.
Forms of Cleft Palate 12

 Incomplete cleft palate

A cleft in the back of the mouth in the
soft palate.
 Complete cleft palate
A cleft affecting the hard and soft parts Incomplete
cleft palate
of the palate. The mouth and nose
cavities are exposed to each other.
 Sub mucous cleft palate Complete
A cleft involving the hard and/or soft cleft palate
palate, covered by the mucous
membrane lining the roof of the mouth.
May be difficult to visualize.
Sub mucous
cleft palate
Causes 13

 Cleft lip and cleft palate are thought to be caused by a

combination of genes and other factors, such as things the
mother comes in contact with in her environment, or what the
mother eats or drinks, or certain medications she uses during
pregnancy.
 Recently, CDC reported an important finding from research
studies about some factors that increase the chance of having
a baby with an orofacial cleft:
 Smoking―Women who smoke during pregnancy are more likely
to have a baby with an orofacial cleft than women who do not
smoke.
Causes 14

 Diabetes―Women with diabetes

diagnosed before pregnancy have an
increased risk of having a child with a cleft
lip with or without cleft palate, compared
to women who did not have diabetes.
 Use of certain medicines―Women who
used certain medicines to treat epilepsy,
such as topiramate or valproic acid, during
the first trimester (the first 3 months) of
pregnancy have an increased risk of
having a baby with cleft lip with or without
cleft palate, compared to women who
didn’t take these medicines.
Problems associated with clefts 15

 Dental problems
 Aesthetic problems
 Hearing and speech problems
 Psychological problems
Diagnosis 16

 In most cases, a prenatal ultrasound

can detect cleft lip alone or cleft lip
and palate as early as 16 weeks into
a pregnancy.
 The diagnosis is then confirmed at
birth with a detailed visual
assessment and physical
examination.
 In some cases of incomplete cleft lip,
the diagnosis cannot be seen on
ultrasound and is made for the first
time at birth.
 Treatment 17

 Treatment for a cleft lip/cleft

palate usually involves
reconstructive surgery and several
key support services.
 Other treatments, such as
speech therapy and dental care,
may also be needed.
 The cleft lip usually is corrected
early in a child's life,
between 3 to 6 months of age,
but sometimes later.
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References 21

 C. O. CARTER, ,. EVANS, R. COFFEY, J. A. F. ROBERTS, A. BUCK and M. F.

ROBERTS, "A three generation family study of cleft lip with or without cleft
palate," Journal of Medical Genetics,, vol. 19, no. 4, pp. 246-261, 1982.
 "NHS," [Online]. Available: https://www.nhs.uk/conditions/cleft-lip-and-
palate/treatment/.
 "MAYOCLINIC," [Online]. Available: https://www.mayoclinic.org/.
 "SlideShare," 2017. [Online]. Available: https://www.slideshare.net.
 P. Mossey and J. Little, "Addressing the challenges of cleft lip and palate
research in India," Indian Journal of Plastic Surgery, vol. 42, 2009.
 "Centers for Disease Control and Prevention," [Online]. Available:
https://www.cdc.gov/.
 C. Wint, "healthline," [Online]. Available: https://www.healthline.com.