CONGENITAL & HEREDITARY

DISEASES
MEDICAL BIOTECHNOLOGY SEMINAR
(BIY5006)
 CONGENITAL DISORDERS
 A congenital disorder is a condition that is present from birth.
 Congenital A birth defect is a health problem or a physical abnormality.
 Congenital disorders can be inherited or caused by environmental factors.
 Their impact on a child’s health and development isn’t always severe, and
sometimes it can be quite mild.
 However, a child with a congenital disorder may experience a disability or health
problems throughout life.
 About 3 to 4 percent of babies are born with some type of birth defect. Some
birth defects are life-threatening, in which case a baby may only live for a few
months.

HEREDITARY DISEASES
 It is a disease or disorder that is inherited genetically.
 Hereditary Diseases are passed on from one generation to another through
defective genes.
 The chromosomes in humans are responsible for passing the traits from the
parent to the offspring.
 Hereditary diseases are caused by genetic mutations, the terms “hereditary”
and “genetic” used interchangeably when referring to inherited disease. But
while a genetic disease is also the result of a gene mutation, it may or may not
be hereditary.
 These mutations occur either randomly or due to an environmental factor. They
are not passed down from parent to child, as is the case with a hereditary
disease.
 PREVALENCE OF CONGENITAL DISEASES
 An estimated 295 000 newborns die within 28 days
of birth every year, worldwide, due to congenital
anomalies.
 An estimated 6% of babies worldwide are born with a
congenital anomaly, resulting in hundreds of thousands
of associated deaths.
 Congenital anomalies account for 8-15% of perinatal
deaths and 13-16% of neonatal deaths in India.
 Congenital anomalies can contribute to long-term
disability, which may have significant impacts on
individuals, families, health-care systems, and societies.
 The most common, severe congenital anomalies are
heart defects, neural tube defects and Down syndrome.
 Although congenital anomalies may be the result of one
or more genetic, infectious, nutritional or
environmental factors, it is often difficult to identify
the exact causes.

 Low-income may be an indirect determinant of congenital anomalies, with a higher frequency among
resource-constrained families and countries.
 Factors often associated with lower-income may induce or increase the incidence of abnormal prenatal
development.
 COMMON CONGENITAL DISEASES
S.No BODY LOCATION
1 Congenital malformations of the nervous system
2 Congenital malformations of the Lip and Palate
3 Congenital malformations of the eye, ear, face
and neck
4 Congenital malformations and deformations of
the musculoskeletal system
5 Congenital malformations of the circulatory
system and Heart
6 Congenital malformations of the urinary system
7 Congenital malformations of genital organs
8 Congenital malformations of the digestive
system
9 Chromosomal abnormalities
*Lists of selected external and internal congenital anomalies are given in the table
CONGENITAL DISEASE
Anencephaly, Craniorachischisis, Iniencephaly, Encephalocele,
Spina bifida, Microcephaly
Cleft palate alone, Cleft lip alone, Cleft palate with cleft lip
Microtia/Anotia
Talipes equinovarus, Reduction defects of upper and lower limbs
(longitudinal, transverse, and intercalary), Exomphalos
(omphalocele), Gastroschisis
Common truncus (truncus arteriosus), Hypoplastic left heart
syndrome, Interrupted aortic arch, Pulmonary valve atresia,
Tetralogy of Fallot, Transposition of the great arteries,
Tricuspid valve atresia and stenosis
Renal agenesis/hypoplasia
Hypospadias
Esophageal agenesis/hypoplasia, Large intestinal atresia/stenosis,
Rectal atresia/stenosis
Trisomy 21 (Down syndrome), Klinefelter Syndrome, Edward’s
Syndrome
 COMMON CONGENITAL DISEASES
CONGENITAL MALFORMATIONS OF THE NERVOUS SYSTEM CLEFT LIP AND CLEFT PALATE MICROTIA/ANOTIA

ANENCEPHALY CRANIORACHISCHISIS ENCEPHALOCELE CONGENITAL MALFORMATIONS OF THE DIGESTIVE SYSTEM

HYDROCEPHALY MICROCEPHALY MACROCEPHALY SPINA BIFIDA OESOPHAGUS RECTAL

ATRESIA INTESTINAL ATRESIA ATRESIA/STENOSIS
CONGENITAL MALFORMATIONS OF THE CIRCULATORY SYSTEM CONGENITAL MALFORMATIONS AND DEFORMATIONS OF THE MUSCULOSKELETAL
SYSTEM

CLUB FOOT (TALIPES)

 CAUSES OF CONGENITAL DISEASES
 Although approximately 50% of all congenital anomalies cannot be linked to a specific cause, there are some known
genetic, environmental and other causes or risk factors.
Genetic factors
 Genes play an important role in many congenital anomalies. This might be through
inherited genes that code for an anomaly or resulting from sudden changes in genes
known as mutations.
 Consanguinity (when parents are related by blood) also increases the prevalence of
rare genetic congenital anomalies and nearly doubles the risk for neonatal and
childhood death, intellectual disability, and other anomalies.
 Some ethnic communities (such as Ashkenazi Jews or Finns) have a comparatively
high prevalence of rare genetic mutations such as Cystic Fibrosis and Haemophilia C.

Socioeconomic and demographic factors

 Low-income may be an indirect determinant of congenital anomalies, with a higher
frequency among resource-constrained families and countries.
 It is estimated that about 94% of severe congenital anomalies occur in low- and
middle-income countries.
 An indirect determinant, this higher risk relates to a possible lack of access to
sufficient, nutritious foods by pregnant women, an increased exposure to agents or
factors such as infection and alcohol, or poorer access to healthcare and screening.
 Factors often associated with lower-income may induce or increase the incidence of
abnormal prenatal development.
 Maternal age is also a risk factor for abnormal intrauterine fetal development.
Advanced maternal age increases the risk of chromosomal abnormalities, including
Down syndrome.
 CAUSES OF CONGENITAL DISEASES
Environmental factors
 Maternal exposure to certain pesticides and other chemicals, as well
as certain medications, alcohol, tobacco and radiation during
pregnancy, may increase the risk of having a fetus or neonate
affected by congenital anomalies.
 Working or living near, or in, waste sites, smelters or mines may also
be a risk factor, particularly if the mother is exposed to other
environmental risk factors or nutritional deficiencies.

Infections
 Maternal infections such as syphilis and rubella are a significant cause
of congenital anomalies in low- and middle-income countries.
 Zika virus infection during pregnancy is a cause of microcephaly and
other congenital abnormalities in the developing fetus and newborn.
 Zika infection in pregnancy also results in pregnancy complications
such as fetal loss, stillbirth, and preterm birth.

Maternal nutritional status

 Maternal folate insufficiency increases the risk of having a baby with
a neural tube defect while excessive vitamin
 A intake may affect the normal development of an embryo or fetus
 PREVENTION OF CONGENITAL DISEASES
 Eat a healthy diet: Eating a balanced diet before and during pregnancy is not only good for the mother's overall health, but
essential for providing the developing fetus with essential nutrients for proper growth and development.
 Stop smoking: Babies born to mothers who smoke or alcohol tend to be lower birthweight; in addition exposure to
secondhand smoke can harm the fetus.
 Maintain a healthy weight: Women who are overweight may experience medical problems such as high blood pressure and
diabetes, and women who are underweight may have babies with low birthweight.
 Medical management of preexisting conditions: Take control of any current or preexisting medical problems, such as diabetes
or high blood pressure.
 Folic acid: Taking 400 micrograms of folic acid each day can help lower the risk of neural tube defects, or birth defects of
the brain and spinal cord. The vitamin is also found in some green leafy vegetables, nuts, beans, citrus fruits, and fortified
breakfast cereals.
 Avoid exposure to alcohol and drugs during pregnancy: Be sure to inform your physician of any medications and herbal
supplements you are taking, since they can all have adverse effects on the developing fetus.
 Avoid exposure to harmful substances: These include lead, pesticides, and radiation (i.e., x-rays), which may harm the
developing fetus.
 Lower your risk for infection. Pregnant women should avoid eating undercooked meat and raw eggs and avoid all contact
and exposure to cat feces and cat litter, which may contain a parasite, toxoplasma gondii, that causes toxoplasmosis. Other
sources of infection include insects that have been in contact with cat feces.
 Take a daily vitamin: Begin taking a prenatal vitamin daily, prescribed by your doctor, to make sure your body gets all the
necessary nutrients and vitamins needed to nourish a healthy baby.
 Dealing with domestic violence: Women who are abused before pregnancy may be at risk for increased abuse during
pregnancy.
 DIAGNOSIS OF CONGENITAL DISEASES
Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health
practices, as well as medical genetic screening and counselling. Screening of Congenital Diseases be conducted during the 3 periods
listed:
Preconception screening:
♫ It can be useful to identify those at risk for specific disorders or at risk of passing a disorder onto their children.
♫ Screening includes obtaining family histories and carrier screening, and is particularly valuable in countries where
consanguineous marriage is common.
Peri-conception screening:
♫ Maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk.
♫ This may include screening for young or advanced maternal age, as well as screening for use of alcohol, tobacco or other risks.
♫ Ultrasound can be used to screen for Down syndrome and major structural abnormalities during the first trimester, and for
severe fetal anomalies during the second trimester.
♫ Maternal blood can be screened for placental markers to aid in prediction of risk of chromosomal abnormalities or neural tube
defects, or for free fetal DNA to screen for many chromosomal abnormalities.
♫ Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose chromosomal abnormalities and
infections in women at high risk.
Neonatal screening
♫ It includes clinical examination and screening for disorders of the blood, metabolism and hormone production.
♫ Screening for deafness and heart defects, as well as early detection of congenital anomalies, can facilitate life-saving
treatments and prevent progression towards some physical, intellectual, visual, or auditory disabilities.
♫ In some countries, babies are routinely screened for abnormalities of the thyroid or adrenal glands before discharge from the
maternity unit.
 TREATMENT OF CONGENITAL DISEASES
 Many structural congenital anomalies can be corrected with paediatric surgery and early treatment can be
administered to children with functional problems such as thalassaemia (inherited recessive blood disorders),
sickle cell disorders, and congenital hypothyroidism (reduced function of the thyroid).
 Although most birth defects cannot be cured. Treatment focuses on managing the symptoms. In some cases,
however, there are ways to treat specific birth defects.
Gene therapy
 Gene therapy replaces a gene that is either missing or defective. Severe combined immunodeficiency diseases
(SCID) are a group of very rare diseases for which gene therapy has been used.
Enzyme replacement therapy
 Enzymes are proteins for which genes code. So when a gene is mutated and does not produce the gene
product, an enzyme is missing or defective.
 One way to treat this type of genetic defect is to replace the enzyme that the gene is not producing. An
example of a condition for which enzyme replacement therapy has been developed is Gaucher disease.
Prenatal treatment
 Some birth defects can be diagnosed and treated before birth.
 Prenatal surgery, for instance, can treat babies with urinary tract blockages and rare lung tumors.
 TREATMENT OF SPECIFIC CONGENITAL DISEASES
Congenital heart disease
 It is a general term for a range of birth defects that affect the normal way the heart
works.
 Treatment for congenital heart disease usually depends on the defect the mother or
the child has.
 Mild defects, such as holes in the heart, often don't need to be treated, as they
may improve on their own and may not cause any further problems.
 Surgery or interventional procedures are usually required if the defect is
significant and causing problems. Modern surgical techniques can often restore
most or all of the heart's normal function.

Spina Bifida
 Spina bifida is a birth defect that occurs when the spine and spinal cord don't form
properly. It's a type of neural tube defect. The neural tube is the structure in a
developing embryo that eventually becomes the baby's brain, spinal cord and the tissues
that enclose them.
 The two main spina bifida treatment options are fetal surgery during pregnancy or
surgery on the baby right after birth.

 Traditional spina bifida treatment takes the form of surgical repair 24 to 48 hours after birth. The child will undergo general
anesthesia. A pediatric neurosurgeon removes the MMC sac, if one is present, and closes the surrounding tissue and skin over
the defect to protect the spinal cord.
 COMMON HEREDITARY DISEASES
Sickle Cell Disease
 Sickle cell disease is a hereditary disease caused by mutations in one of the genes that
encode the hemoglobin protein.
 Red blood cells with the abnormal hemoglobin protein take on a sickle shape. The
disease leads to chronic anemia and significant damage to the heart, lungs and kidneys.
Sickle cell disease is the most common inherited blood disorder in the United States,
affecting around 100,000 Americans, most commonly in African Americans.
 There is a 25% chance that a child will be born with sickle cell disease if both parents
have the defective gene. If a child inherits only one copy of the defective gene (from
either parent), typically he or she won’t get the disease, but there is a 50% chance that
the child will carry the sickle cell trait.

Cystic Fibrosis
 Cystic fibrosis (CF) is caused by a gene mutation that affects the cells that produce
mucus, sweat, and digestive juices.
 The mucus becomes thick and sticky, causing severe damage to the respiratory,
digestive and reproductive systems.
 Children who inherit only one copy of the defective gene are carriers who could pass
the gene on to their own children.
 But children who inherit two copies of the defective gene, one copy from each parent,
will develop cystic fibrosis.
 The disease is most common in white people of Northern European ancestry.
 COMMON HEREDITARY DISEASES
Tay-Sachs disease (TSD)
☻ Tay-Sachs disease (TSD) is a fatal genetic disorder that results in progressive
destruction of the nervous system.
☻ It is caused by gene defects that lead to the absence of a vital enzyme called
hexosaminidase-A (Hex-A).
☻ Carriers of the defective gene have a 50% chance of passing the gene to their children.
If a child inherits one defective gene, the child is a Tay-Sachs carrier.
☻ If the child receives a defective gene from both parents, the child will have the disease.
The incidence of Tay-Sachs is significantly higher among people of eastern European
(Ashkenazi) Jewish descent.

Hemophilia
 Most common among males, hemophilia is characterized by a deficiency in blood
clotting leading to abnormal bleeding.
 The hemophilia gene is located on the X chromosome that encodes gender. Since males
have an X and a Y chromosome, they inherit only one copy of the X chromosome (from
their mother).
 So, if their mother is a carrier of the mutated gene, they have a better chance of
inheriting hemophilia. Females have two X chromosomes (one from their mother and
one from their father), and one usually has a normal copy of the gene.
 This means most women with the gene mutation are carriers, but have no signs or
symptoms of the disease.
 COMMON HEREDITARY DISEASES
Huntington’s Disease
☻ Huntington's disease is an inherited condition that comes on in mid-life.
☻ It causes the progressive breakdown of nerve cells in the brain, leading to a loss
of brain and muscle function.
☻ Caused by an inherited defect in a single gene, the disease is an autosomal
dominant disorder, which means that a person needs only one copy of the
defective gene to develop the disorder.
☻ Each parent with a defective gene could pass along either a defective copy or a
healthy copy, leaving a child with a 50% chance of inheriting the disease.

Muscular Dystrophy
 In muscular dystrophy, defective genes interfere with the production of proteins
necessary for healthy muscle development.
 Such symptoms as progressive muscle weakness and loss of muscle mass often begin in
childhood, though the disease can affect all ages, and all races.
 There are several types of muscular dystrophy, but the most common form, Duchenne,
usually occurs in young boys.
 Most forms are inherited, so people with a family history of the disease are at a higher
risk of developing it.
 HUNTINGTON’S DISEASE
Huntington’s Disease
☻ Huntington's disease (HD) is a hereditary and deadly disorder that causes nerve cells in the brain to break down.
☻ This causes physical and mental abilities to weaken, and they get worse over time. There is no cure. If it starts early in life,
it’s called juvenile Huntington’s disease.
Symptoms
 Common early symptoms include:
 Trouble learning new things
 Trouble making decisions
 Memory lapses
 Mood swings
 Clumsiness
 Slow or abnormal eye movements
 Muscle problems (dystonia)
 Trouble sleeping (insomnia)
 Loss of energy and fatigue
Final stage symptoms
 In this stage, people with Huntington's must depend on others for their care. Walking and speaking are not possible.
 Fidgety movements may become severe, or may subside.
 Juvenile Huntington’s disease symptoms, In children or teens, Huntington's may progress more quickly and cause symptoms
like: Stiff or awkward walking, Increased clumsiness, Changes in speech, Trouble paying attention, Sudden drop in school
performance, Behavior problems, Tremors, Seizures
 HUNTINGTON’S DISEASE
Diagnosing Huntington's Disease
☻ Family history plays a major role in a diagnosis. Your doctor will ask you questions about your medical background and give
you a physical exam. If you and your doctor suspect Huntington’s disease, a neurologist will conduct more tests.
☻ A neurologist may test: Reflexes, Muscle strength, Balance, Sense of touch, Vision, Hearing, Mood and mental status, Memory,
Reasoning, Thinking skills, Speech
Treatment and Home Remedies for Huntington's Disease
☻ Medications can help control fidgety movements. Your doctor can work closely with you to manage any side effects and to
change medications, if needed.
☻ Some antipsychotic drugs have a side effect that controls movement and have been helpful for some people.
☻ Antidepressants can also help with obsessive-compulsive disorder.
☻ Mood-stabilizing drugs can ease symptoms of mood disorders, but may cause other side effects.
☻ Speech or language therapy may be helpful for any problems with speech or swallowing.
☻ Occupational or physical therapy may help you learn how to better control movements. And assistive devices such as
handrails can help you manage your changing physical abilities.
☻ Nutritional support ranges from using special utensils to focusing on nutrient-dense foods to supplementing with tube feeding
in later stages.
☻ Exercise may be very helpful. People with Huntington's who stay as fit and active as they can seem to do better than those
who do not.
☻ Psychotherapy can teach you ways to manage changes in your emotions and how you think. Strategies like breaking tasks
into simpler steps may go a long way toward making these changes a bit easier for you and your family.
 REFERENCES
☻ https://www.childrenshospital.org/conditions-and-treatments/conditions/b/birth-defects-and-
congenital-anomalies/diagnosis-and-treatments
☻ https://www.who.int/data/gho/data/indicators/indicator-details/GHO/number-of-deaths
☻ https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies
☻ https://www.spine-health.com/glossary/congenital-disorder
☻ https://rarediseases.info.nih.gov/diseases/diseases-by-category/5/congenital-and-genetic-diseases
☻ https://www.genome.gov/search?terms=hereditary+disease
☻ https://www.longdom.org/scholarly/hereditary-diseases-journals-articles-ppts-list-383.html
☻ PS, A., Thottumkal, V.A. and Deepak, M.G., 2013. CONGENITAL ANOMALIES: A MAJOR PUBLIC
HEALTH ISSUE IN INDIA. International Journal of Pharmaceutical, Chemical & Biological
Sciences, 3(3).
☻ https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-
1.html
JUST FOR LAUGHS!!