CONGENITAL ANOMLY

1. CONGENITAL
ABNORMALITIES

3. Definition
• The word "congenital" means "at birth."
"Anomaly"comes from the Greek word
"anomalos" meaning "uneven" or "irregular.“
• (Something that is unusual or different at
birth. )
• A congenital abnormality is any defect in form,
structure or function. (Myles)

4. Types of abnormalities
1-Malformations: this occurs during the formation of the
structures of the organ (during organogenesis) results in partial
or complete non formation or alterations in the normal
structure. This occurs in the 3rd to the 8th week of gestation. Ex.
Cleft lip and or cleft palate.
2-Disruptions: results in morphological change of the already
formed structure due to exposure to destructive process. e.g.:
vascular accidents leading to intestinal atresia, amniotic band
disruption.
3-Deformations: due to mechanical forces that affect a part of the
fetus over a long period. Ex: talipes equinovarus deformity.
4-Syndrome: is a group of anomalies occurring together due to a
common cause .

5. • During the first 2 weeks of development,
teratogenic agents usually kill the embryo or have
no effect.
• During the organogenesis period (3rd – 8th
weeks), teratogenic agents disrupt development
and may cause major congenital anomalies.
• During the fetal period (9th week – 9th month)
teratogens may produce morphological and
functional abnormalities, particularly of the brain
and eyes.

6. • The genetic factors leading to congenital anomalies
may be due to chromosomal abnormalities, gene
mutations or may be multifactorial.
• Chromosomal abnormalities occur due to:
- late maternal age at the time of pregnancy
(leads to chromosomal non-disjunction),
- radiation (causes chromosome deletions,
translocations or breaks),
- viruses as German measles,
- autoimmune diseases,
- and some chemical agents as anti-mitotic drugs.

7. Causes of congenital malformations
A/Genetic
1-Chromosomal aberrations:
• This is present in about 10-15% of a live infants with congenital
malformations (abnormality either in number or structure of
chromosome)
• Example Down syndrome, Klinefelter syndrome, Turner
syndrome.
• Many of these cytogenetic aberrations arise as defects in
gametogenesis & so are not familial. However, several can passed
from one generation to the next
2-Mendelian inheritance (single gene mutations):
• This is present in 2-10% of a malformed live birth
• Approximately 90% are inherited as autosomal dominant or
recessive, while the remainder segregate in an X-linked pattern
• Example Marfan syndrome, mucopolysaccharidoses

8. B/Environmental:
1-Maternal/Placental infections
• Present in 2-3% of malformed live births
• Rubella
• Cytomegalovirus
• HIV
• Syphilis
• Toxoplasmosis
• With all these infections the gestational age at
which the infection occurs in the mother is critically
important. The incidence of malformation caused
by Rubella decrease from 50% to 20% to 7% in 1st,
2nd, & 3rd trimester

9. 2. Maternal disease states
• It represent 6-8% of malformed live births
• Diabetes result in fetal macrosomia & diabetes embryopathy
• Phenylketonuria
• Endocrinopathies
3-Drugs & chemicals
• Seen in 1% of malformed living births
• Alcohol
• Folic acid antagonists
• Androgens
• Phyenytoin
• Thalidomide
• Warfarin
• 13-cis-retinoic acid
4-Irradiation
• Seen in 1% of malformed living births in addition to
being mutagenic and carcinogenic, it is teratogenic.
Exposure to high level of radiation during the period of
organogenesis leads to malformations, such as
microcephily, blindness, skull defects, spina bifida, and
other deformities.

10. C/ Multifactorial (multiple genes +/- environment)
– Cause 20-25% of malformed living births
– Example cleft lip, cleft palate & congenital dislocation of
the hip
D/Unknown
– Represent 40-60% of malformed living births

11. Mechanism of Malformations
• The pathogenesis of these is complex & still poorly
understood,
• The timing of teratogenic insult has an important
impact on the occurrence & the type of malformation
produce
– Between 3rd & 9th weeks the embryo is extremely
susceptible to teratogenesis and the peak
sensitivity is the fourth & fifth weeks
– In the fetal period (9th weeks to birth) fetus is
susceptible to growth retardation & injury to
already formed organs

13. Perinatal infections
 In general fetal & perinatal infections are acquired via one of two primary routes
 Transcervical (ascending)
 Transplacentally (hematologic)
 Occasionally, infections occur by a combination of the 2 routes
1-Transcervical (ascending) infections
 Include most bacterial & a few viral (e.g., HSV-II)
 Such infections may be acquired in utero or around the time of birth
 Occurs by inhaling of infected amniotic fluid into the lungs or by passing through an
infected birth canal during delivery. Pneumonia, sepsis & meningitis are the most
common sequelae
2-Transplacental (hematologic) infections
• Most parasitic & viral infection & a few bacterial (e.g., Listeria, Treponema)
• These gain access to the fetal blood stream transplacentally via the chorionic villi
• Infections may occur at any time during gestation or occasionally, as may be the case
with hepatitis B & HIV at time of delivery via maternal to fetal transfusion
• TORCHES infections (Toxoplasma, Rubella, Cytomegalovirus, Herpes virus, Syphilis,
Other bacterial & viral agents)
• Causes fever, encephalitis, chorioretinitis, hepato-splenomegaly, pneumonitis,
myocarditis, hemolytic anemia, growth & mental retardation, cataracts, bone defects

14. Gastro Intestinal Malformations
These include..
• Gastroschisis
• Atresias
• Exomphalos

15. Gastroschisis
• In the womb, fetal intestines develop
outside of the abdomen for a brief time.
In normal cases, the intestines return to
the abdominal cavity,and baby's
abdomen closes before birth.
• Gastroschisis is an abdominal-wall defect
that occurs on the side of the umbilical
cord (umbilicus).
• The baby is born with intestines
protruding through this defect, and no
protective sac is present.
• Gastroschisis is rarely associated with
other birth defects.
• Gastroschisis is a life-threatening defect,
requiring immediate intervention.

16. Treatment- Operative correction
• The infant is cared for post-operatively in a neonatal intensive-care
unit in Incubator to keep warm and avoid infection, Oxygen is
provided, Intravenous fluids, antibiotics, and pain medications are
also given. A nasogastric tube is inserted to keep the stomach
emptied of gastric secretions. Feedings through the nasogastric
tube begin as soon as bowel function resumes.

17. Examphalos or Omphalocele
• It is a defect in which the bowel or
other viscera protrude through
the umbilicus. Exomphalos is a
weakness of the baby‘s abdominal
wall where the umbilical cord
joins it. This weakness allows the
abdominal contents, mainly the
bowel and the liver to protrude
outside the abdominal cavity
where they are contained in a
loose sac that surrounds the
umbilical cord.

18. Management
• An infant with exomphalos (omphalocoele) has no
abdominal wall muscle around the base of the umbilical
cord. The normal abdominal wall is replaced by a thin
membrane through which the bowel may be seen.
• The covering membrane may burst at delivery. After birth
the cord should be clamped well away from the
exomphalos.
• The abnormality should be covered with sterile gauze or
plastic wrapping.
• Whether the exomphalos is big or small, all these infants
must be transferred urgently to a level 2 or 3 hospital for
management.

19. Atresias
• It may be defined as a congenital absence or
abnormal narrowing of a body opening
• It can affect different sites in the GI tract.
• oesophageal
• duodenal
• small bowel
• colonic
• anorectal.

20. Oesophageal atresia
• Oesophageal atresia is an
obstruction of the oesophagus due
to a section of the oesophagus
which is missing. It is usually
associated with a connection
(fistula) between the lower
oesophagus and the bronchi of the
lungs.
• Polyhydramnios is almost always
present during pregnancy as the
fetus cannot swallow. After birth
these infants also cannot swallow
as the oesophagus ends in a blind
pouch.

21. Oesophageal atresia- Management
• The feed, which cannot be swallowed, is inhaled into the
lungs. Gastric acid passes from the stomach into the
bronchi, via a fistula, Both inhaled feeds and the reflux of
gastric acid result in respiratory distress.
• Do not feed any infant that you suspect of having an
oesophageal atresia.
• The diagnosis is confirmed by the inability to pass a
nasogastric tube.
• Whenever polyhydramnios is diagnosed, a nasogastric tube
must be passed at birth to exclude oesophageal atresia
before the first feed is given.
• Polyhydramnios always suggests oesophageal Atresia
• Surgical correction

22. Duodenal atresia and Management
• Duodenal atresia is an obstruction of
the duodenum.
• Polyhydramnios may have been present
and the amniotic fluid may also be bile
stained due to the fetus vomiting.
• Soon after delivery the infant starts
vomiting. The vomit is often bile stained
• The diagnosis is easily confirmed by an
abdominal X-ray that shows 2 bubbles
of air only in the bowel. These infants
must be kept nil per mouth, the
stomach should be emptied via a
nasogastric tube.
• Surgical correction

23. Rectal atresia and imperforate anus
• Imperforate anus is a defect that is present from birth
(congenital) in which the opening to the anus is missing or
blocked.
Various forms:-
• The rectum may end in a blind pouch that does not connect
with the colon.
• The rectum may have openings to the urethra, bladder,
base of the penis or scrotum in boys, or vagina in girls.
• There may be narrowing (stenosis) of the anus or no anus.
• The problem is caused by abnormal development of the
fetus. Many forms of imperforate anus occur with other
birth defects.

24. Symptoms and management
• Anal opening very near the vagina opening in girls.
• Baby does not pass first stool within 24 – 48 hours after birth.
• Missing or moved opening to the anus.
• Stool passes out of the vagina, base of penis, scrotum, or urethra.
• Swollen belly area
TREATMENT
• The infant should be checked for other problems, especially those
affecting the genitals, urinary tract, and spine.
• Surgery to correct the defect is needed. If the rectum connects with
other organs, these organs will also need to be repaired.
• A temporary colostomy (connecting the end of the large intestine to
the abdomen wall so that stool can be collected in a bag) is often
needed.

26. Malrotation or Volvulus
• A volvulus is a bowel obstruction with a loop of bowel that has
abnormally twisted on itself.
SINGS AND SYMPTOMS
• Bowel obstruction, manifested as abdominal distension and
vomiting.
• Ischemia (loss of blood flow) to the affected portion of intestine.
• Severe pain and progressive injury to the intestinal wall, with
accumulation of gas and fluid in the portion of the bowel
obstructed.
TREATMENT
• Sigmoidoscopy
• Laparotomy

27. Meconium ileus (Cystic fibrosis)
• In meconium ileus the meconium
is particularly viscous and causes
intestinal obstruction.
• Symptoms include emesis that
may be bilious, abdominal
distention, and failure to pass
meconium.
• Diagnosis is based on clinical
presentation and x-rays.
• Treatment is enemas with dilute
contrast under fluoroscopy and
surgery if enemas fail.

28. Hirschsprung's disease
• Hirschsprung's disease is a blockage of the
large intestine due to improper muscle
movement in the bowel. It is a congenital
condition.
• CAUSES: Muscle contractions in the gut help
digested materials move through the
intestine. This is called peristalsis. Nerves in
between the muscle layers trigger the
contractions. In Hirschsprung's disease, the
nerves are missing from a part of the bowel.
Areas without such nerves cannot push
material through. This causes a blockage.
Intestinal contents build up behind the
blockage, causing the bowel and abdomen to
become swollen.
• Hirschsprung's disease is sometimes
associated with other inherited or congenital
conditions, such as Down syndrome.

29. Symptoms and management
Symptoms that may be present in newborns and infants
include:
• Difficulty with bowel movements, Failure to pass
meconium shortly after birth
• Failure to pass a first stool within 24 - 48 hours after
birth
• Jaundice, Poor feeding, Vomiting
During a physical examination, the doctor may be able to
feel loops of bowel in the swollen belly. A rectal
examination may reveal a loss of muscle tone in the
rectalmuscles.
• Abdominal x-ray, Barium enema, Rectal biopsy
Management:
Colostomy. Usually performed as one stage procedure in
neonatal period.

30. Abnormalities related to Respiratory
system
• Diaphragmatic Hernia
• Choanal Atresia
• Laryngeal Stridor

31. Congenital diaphragmatic hernia
• A diaphragmatic hernia is a
birth defect in which there is
an abnormal opening in the
diaphragm
• The opening allows part of
the organs from the belly
(stomach, spleen, liver, an
intestines) to go up into the
chest cavity near lungs.

32. Causes, symptoms and management
Causes: Diaphragmatic hernia is caused by the
improper joining of structures during fetal
development. The lung tissue on the affected side
is not completely developed. Most affect the left
side.
Symptoms: Severe breathing difficulty, Bluish
colored, Rapid breathing, tachycardia
Diagnosis: The pregnant mother may have excessive
amounts of amniotic fluid. Fetal ultrasound, Xray
Management: Diaphragmatic hernia repair. The
lung tissue may be underdeveloped on the
affected side, and the outcome depends upon the
development of the lung tissue.

33. Choanal atresia
• Choanal atresia describes a unilateral or
bilateral narrowing of the nasal passage(s)
with a web of tissue or bone occluding the
nasopharynx.
• SYMPTOMS: Newborns generally prefer to
breathe through their nose. Babies with
choanal atresia have difficulty breathing
unless they are crying, Chest retracts, crying
Difficulty, Cyanosis, Inability to pass a
catheter through each side of the nose into
the throat
• Management: An airway may need to be
placed so that the infant can breathe. In
some cases, intubation or tracheostomy
may be needed. Surgery to remove the
obstruction cures the problem. The surgery
may be done through the nose (transnasal)
or through the mouth (transpalatal).

34. Laryngeal Stridor
Laryngomalacia (also called congenital laryngeal stridor)
results from a congenital (present at birth) anomaly of
the larynx (voice box). A weakness in the structures in
the larynx, can cause stridor.
• Stridor is a high-pitched sound that is heard best when
the child breaths in (inspiration).
CAUSE: Laryngomalacia is a defect that is present at birth.
During fetal development, the structures in the larynx
may not fully develop.
• Management: In most cases, laryngomalacia resolves
on its own, without medical intervention. The
condition usually improves by the time the infant is 18
months old. Child needs management when chest
retractions and breathing difficulty

35. Congenital cardiac defects
• A congenital heart defect is a problem with the structure of
the heart. It is present at birth.
• Congenital heart defects are the most common type of
major birth defect.
• A baby's heart begins to develop shortly after conception.
During development, structural defects can occur.
• These defects can involve the walls of the heart, the valves
of the heart and the arteries and veins near the heart.
• Congenital heart defects can disrupt the normal flow of
blood through the heart.
The blood flow can
• Slow down
• Go in the wrong direction or to the wrong place
• Be blocked completely
Causes: Chromosomal and genetic factors or Teratogens

36. Diagnosis
• PRENATAL DETECTION:
Detailed ultrasound
• POSTNATAL RECOGNITION:
Clinically babies with cardiac anomalies can be
divided into two groups
1.Central Cyanosis
2.Acyanotic Cardiac Defects

37. Types of cardiac defects
Cyanotic cardiac defects:
• Transposition of the great
arteries
• Pulmonary atresia
• Tetra logy of fallot
• Tricuspid atresia
• Total anomalous
pulmonary venous
drainage
• Univentricular/complex
heart
Acyanotic cardiac defects:
• Patent ductus arteriosis
• Ventricular/atrial septal
defect
• Coarctation of aorta
• Aortic stenosis
• Hypoplastic left heart
syndrome

38. Transposition of the great arteries
• A congenital abnormality of
the heart in which the aorta
arises from the right ventricle
and the pulmonary artery
from the left ventricle.
• In TGA the oxygenated blood
is circulated back into the
systemic circuit. Life is
impossible unless there is
septal defect, that permits the
mixing of blood.

39. Symptoms and Management
Causes in mother: Age over 40, Alcoholism, Diabetes, Poor nutrition
during pregnancy, Rubella or other viral illness during pregnancy
Symptoms: Blueness of the skin, Clubbing of the fingers or toes, Poor
feeding, Shortness of breath
Management:
• The baby will immediately receive a medicine called prostaglandin
through an IV (intravenous line). This medicine helps keep a blood
vessel called the ductus arteriosus open, allowing some mixing of
the two blood circulations.
• A procedure using a long, thin flexible tube (balloon atrial
septostomy) may be needed to create a large hole in the atrial
septum to allow blood to mix.
• A surgery called an arterial switch procedure is used to permanently
correct the problem within the baby's first week of life. This surgery
switches the great arteries back to the normal position and keeps
the coronary arteries attached to the aorta.

40. Pulmonary atresia
• Pulmonary atresia is a form of heart disease that
occurs from birth in which the pulmonary valve does
not form properly. (The pulmonary valve is an opening
on the right side of the heart that regulates blood flow
from the right ventricle (right side pumping chamber)
to the lungs.)
• SYMPTOMS: Symptoms usually occur in the first few
hours of life, although it may take up to a few days.
• Bluish colored skin (cyanosis), Fast breathing, Fatigue,
Shortness of breath
• Management: prostaglandin E1 is usually used to help
the blood move (circulate) into the lungs. This
medicine keeps a blood vessel open between the
pulmonary artery and aorta.
• Palliative block shunt

41. Tricuspid atresia
• It usually occurs with a ventricular septal
defect or an atrial septal defect, or both,
allowing mixing of the circulation.
• Potentially more distressing for parents are
the defects that do not initially present with
marked cyanosis. These babies may for a long
time be considered to be healthy.

42. Tetralogy of Fallot
• Tetralogy of Fallot (TOF) is
a congenital heart defect
which is classically
understood to involve four
anatomical abnormalities
• pulmonary outflow tract
obstruction, a ventricular
septal defect, right
ventricular hypertrophy
and an overriding aorta.

43. Patent ductus arteriosus
• Patent ductus arteriosus (PDA) is a congenital
disorder in the heart wherein a neonate's
ductus arteriosus fails to close after birth.
• Early symptoms are uncommon, but in the
first year of life include increased work of
breathing and poor weight gain. With age, the
PDA may lead to congestive heart failure if left
uncorrected.

44. Ventricular/atrial septal defect
• A ventricular septal defect (VSD) is a defect in the
ventricular septum, the wall dividing the left and
right ventricles of the heart.
• Ventricular septal defect is usually symptomless
at birth. It usually manifests a few weeks after
birth.
• Most cases do not need treatment and heal at
the first years of life. Treatment is either
conservative or surgical. Smaller congenital VSDs
often close on their own, as the heart grows, and
in such cases may be treated conservatively

45. Coarctation of the aorta
• Coarctation of the aorta, or aortic coarctation, is a
congenital condition whereby the aorta narrows in the area
where the ductus arteriosus inserts.
• In mild cases, children may show no signs or symptoms at
first and their condition may not be diagnosed until later in
life.
• Some children born with coarctation of the aorta have
other heart defects, too, such as aortic stenosis, ventricular
septal defect, patent ductus arteriosus or mitral valve
abnormalities.
• Coarctation is about twice as common in boys as it is in
girls. It‘s common in girls who have Turner syndrome.
• Therapy/Treatment is conservative if asymptomatic, but
may require surgical resection of the narrow segment if
there is arterial hypertension.

46. Aortic stenosis
• Aortic valve stenosis (AS) is a disease of the
heart valves in which the opening of the aortic
valve is narrowed.
• Treatment is generally not necessary in people
without symptoms. In some cases,
echocardiography is performed every 1–2
years to monitor the progression.

47. Hypo plastic left heart
syndrome
• Hypo plastic left heart
syndrome is a rare
congenital heart defect in
which the left ventricle of
the heart is severely
underdeveloped.
Infant with cyanosis
due to hypo plastic
left heart syndrome

48. Central Nervous System abnormalities
• Ingestion of folic acid supplements prior to
conception and during the early stages of
pregnancy has helped prevent such
abnormalities. The abnormalities include:
• Anencephaly
• Spina bifida
• Hydrocephalus
• Microcephaly

49. Anencephaly
• The absence of the forebrain and
vault of the skull. It is the condition
that is incompatible with sustained
life but occassionally such a baby is
born alive.
Management:-
• The Midwife should wrap the baby
carefully before showing the baby to
the mother.
• It is recognized that seeing and
holding the baby will facilitate the
grieving process.

50. Spina Bifida
• Spina Bifida is failure of the
vertebral column.
• There is no skin covering the
defect, which allows
protrusion of the meninges
• Often times surgery is
performed within twenty-four
to forty-eight hours of birth to
close any openings in the
child‘s lower back and
reconstruct the spine and
other tissues in the area.

51. Microcephaly
• Abnormal smallness of the head in
relation to the size of the rest of the
body. A congenital condition in which
the brain is not fully developed.
Causes:
• Intrauterine infection like Rubella.
• Alcohol syndrome.
• Some trisomic disorders, That is
chromosomal defect e.g. Down
syndrome.
Symptoms: children with microcephaly
may have:
• mental retardation, delayed motor
functions and speech, Dwarfism or
short stature

52. Hydrocephalus
• This condition arises from a
blockage in the circulation and
absorption of cerebrospinal fluid,
which is produced from the
choroid plexuses within the lateral
ventricles of the brain. The large
lateral ventricles increase in size
and eventually, compress the
surrounding brain tissues.
Sign And Symptoms
• Large tense anterior fontanelle
• Splayed skull suture
• Sun setting appearance to the eye
• Irritability or abnormal movements

53. Muskulo skeletal abnormalities
Polydactyly:
• More than the normal number of fingers or
toes. Polydactyly is the opposite of oligodactyly
(too few fingers or toes).
• Surgical correction usually done at 1 year of
age so skeletal development is complete and
accurate anatomic assessment can be done
Syndactyly
• A condition in which fingers or toes are
partially joined together. Syndactyly can
involve the bones or just the skin. With partial
syndactyly, the connection extends from the
base only partway up the involved digits.
• Surgery usually done after one year and may
be delayed as late as 18-24 months.

54. Limb reduction anomaly
• Limb reduction anomalies is a condition in which a baby is
born with a limb deficit. OR A birth defect where all or part
of a limb is absent.
Sign and symptoms:
• Underdeveloped limb bones
• Partial absence of limb
• Complete absence of limb
• Short limbs
• Short digits
• Absent digits
• Partially absent digits
• Malformed limbs
• Bowed limbs.

55. Talipes
• Ankle in a state of
insufficient dorsiflexion to
perform normal gait
• Talipes equinovarus is the
descriptive term for a
deformity of the foot where
the ankle is bent downwards
(planter flexed) and the front
part of the turned inwards
(inverted)
• Talipes calcaneovalgus
describes the opposite
position where the foot is
dorsiflexed and everted

56. Causes and management
Causes of talipes is the abnormal position of the feet and
limited space in the womb during fetal development, which
can result in malformed tendons, muscles and bones.
• the lack of amniotic fluid in the sac surrounding the fetus,
or oligohydramnios, can increase pressure on the feet,
leading to talipes as well.
Treatment
• Treatment for talipes should commence immediately after
birth. The goal is to restore the feet to their normal position
to enable proper function as well as eliminate pain and
deformity. The treatments available are:
• Serial plaster casting and splinting
• Surgery.

57. Developmental hip dysplasia
• Hip dysplasia is the medical name used to describe a problem with
formation of the hip joint in children. The location of the problem
can be either the ball of the hip joint (femoral head), the socket of
the hip joint (the acetabulum), or both.
Causes
• Breech presentation, Primigravida, Oligohydramnios
• more in girls than boys.
Symptoms
• Some babies born with a dislocated hip will show no outward signs:
• Legs of different lengths
• Uneven skin folds on the thigh
• Less mobility or flexibility on one side
• Limping, toe walking, or a waddling, duck-like gait .

58. Treatment
Non surgical treatment
• Treatment methods depend on the child's age.
• Newborns: Newborns re placed in a Pavlik harness for
1 to 2 months to treat DDH. The baby is placed in a
soft positioning device, a Pavlik harness, for 1 to 2
months to keep the thighbone in the socket. This will
help tighten the ligaments around the hip joint and
promote normal hip socket formation in 1 to 6 months
• The baby's thighbone is repositioned in the socket
using a harness or similar device. The method is
usually successful. But if it is not, the doctor may have
to anesthetize the baby and move the thighbone into
proper position, and then put the baby into a body
cast (spica).
Surgical treatment
• Can be done under anesthesia. Open surgery is
sometimes necessary. Afterwards, the child is placed
into a body cast (spica) to maintain the hip position.

59. Achondroplasia
An inherited skeletal disorder beginning
before birth; cartilage is converted to
bone resulting in dwarfism.
Symptoms: a form of dwarfism
• short arms, short legs, and an enlarged
head.
• Obesity is one of the most common
Causes
• The causes of dwarfism are quite variable,
although most are genetic.
• Dwarfism is not necessarily inherited,
often arising from spontaneous
mutations.
• Metabolic disorders can also lead to
dwarfism as a result of malnutrition

60. Management
• Achondroplasia treatment does not include the use of
human growth hormone to increase height. This kind of
hormone therapy is considered viable only in cases of
proportionate dwarfism, in which the limbs and head are
appropriately proportioned to the size of the torso.
• The use of growth hormone has not been shown to
significantly increase adult height when used in children
with achondroplasia.
• Individuals with achondroplasia might require therapeutic
support for issues related to social adjustment.
• Some individuals elect to undergo this surgery to achieve
greater height for cosmetic and social purposes, but this
procedure is not considered medically necessary.

61. Osteogenesis Imperfecta
• Osteogenesis imperfecta, also called Brittle Bone
Disease, is a genetic protein deficiency that results in
fragile bones. The protein affected is usually Type-I
collagen. The disorder is typically a dominant genetic
trait that is passed through the parents, but it may
also be a de novo mutation, with no family history
• Type II OI is the most severe form, in which collagen
is of insufficient quality and quantity.
• Deformities and respiratory problems are severe, and
most cases die within the first year of life.
• In types III, IV, V, and VI OI, collagen is produced in
normal quantities, but its quality is poor. Sufferers of
Types III, IV, V, and VI OI are characteristically short in
stature, with a curved spine and a barrelshaped rib
cage.
• Management: Osteogenesis imperfecta is an
incurable condition. Treatments to manage the
disease include surgery, physical therapy, and physical
aids. Bone infections are managed with antibiotics
and antiseptics

62. Skin abnormalities
Vascular naevi:
• These defects in the development of the skin can
be divided into two main types:
1. Capillary malformations:
• These are due to defects in the dermal capillaries.
The most commonly observed are stork marks‘.
These are usually found on the neck of the skin.
They are generally small and will fade. No
treatment is necessary.
2. Port wine stain:
• A port wine stain is usually a large flat patch of
purple or dark red skin with well-defined borders.
At birth the surface of the port-wine stain is flat,
but in time it becomes bumpy and often more
unsightly. The face is most commonly affected
although they can occur anywhere on the body.
Laser treatment and the use skilful cosmetics will
help to prevent this problem

63. Capillary haemangiomata (strawberry
marks):-
A capillary hemangioma, also called a strawberry mark, is a
red birthmark that is either present at the time of birth
or develops within the first few weeks of life. Most of
these marks begin to fade by the time the child is
between 12 and 15 months old, and some of the marks
disappear completely.
• These birthmarks are more common in girls and babies
who are born prematurely. Most capillary hemangioma
do not cause problems, though they can create vision
problems if present on or near the eye or breathing
problems if they are near the nostrils or mouth.
Treatment:-
• No treatment is normally required unless the
haemangioma is situated in an awkward area where it is
likely to be subject to the abresion,such as on the lip or
around the eye where it may interfere with vision.
• Treatment with steroids or pulsed laser therapy is
possible.

64. Pigmented (melanocytic) naevi:-
• These are brown, sometimes hairy , marks on the skin that
vary in size and may be flat or raised. A percentage of this
type of birth mark may become malignant.
Treatment:-
• Surgical excision may be recommended to pre empts this.
This birth mark will be carried out in the immediate neonatal
period except in the case of large pigment naevi.
• Laser removal is a more common procedure but is not always
successful.

65. Genitourinary abnormalities
• Genitourinary is a word that refers to the
urinary and genital organs. Most neonatal
genitourinary problems are due to congenital
anomalies, it is may be finding a single umbilical
artery in the umbilical cord.
• The first clues to urinary dysfunction are the
quantity and quality of the urinary stream, and
this should be scrutinized in every newborn.
• Common signs of dysfunction include anuria,
hematuria, and masses. Anuria may be caused
by obstruction, a vascular disorder, or renal
agenesis or dysplasia. In the male, obstruction is
commonly caused by posterior urethral valves.
Posterior uretheral valves:-
• This is an abnormality affecting boys the
presence of valves in the posterior urethra
prevents the normal outflow of urine. As a
result the bladder distention causing back
pressure on the ureters and to the kidneys.

66. Sign and symptoms:-
• Inability to void is a common presentation.
• an enlarged bladder that may be detectable through the abdomen
as a large mass
• painful urination, weak urine stream
• bedwetting or wetting pants after the child has been toilett rained
Causes:-
• PUV are the most common cause of severe types of urinary tract
obstruction in children. develop in the early stages of fetal
development. The abnormality affects only male infants.
Treatment:-
• Initially, treatment may focus on relieving your child's symptoms.
• If child has a urinary tract infection, is dehydrated, and/or has
electrolyte irregularities, these conditions will be treated first.
• Endoscopic ablation. the urologist will insert an endoscope, a small,
flexible tube with a light and a camera lens at the end. With this
tube will examine the obstruction and remove the valve leaflets
through a small incision.

67. Potter‘s syndrome:-
• Potter's Syndrome is one of several serious or fatal kidney
abnormalities. In Potter's (or Potter) syndrome the baby's
kidneys do not develop in the first few weeks of life in the
womb. The baby's kidneys are essential for the production
of amniotic fluid in the womb. If there are no kidneys, there
is little or no amniotic fluid (this is known as
oligohydramnios) to expand the womb around the baby
and to allow the baby to grow and move.
• The womb remains small and in its confined space the
baby's lungs cannot develop properly. Many babies with
Potter's syndrome are stillborn. In those who are born
alive, the immediate cause of death is failure to breathe
(respiratory failure) due to underdeveloped (hypoplastic)
lungs, Even if this problem is treated the baby cannot
survive without kidneys. (Potter's syndrome is also known
as Renal Agenesis, which simply means that the kidneys did
not developed

68. Management
• Nutrition: Adequate nutrition is required. Nasogastric
feeding may be indicated in infants.
• Electrolyte abnormalities such as hypocalcemia and
hyperphosphatemia can be treated with medications,
including calcium carbonate and vitamin D.
• Anemia is treated with oral or parenteral iron and
erythropoietin stimulating agents.
• Growth: The use of growth hormone is indicated in children
with a low birth weight who do not grow at a healthy rate.

69. POLYCYSTIC KIDNEYS:-
• Polycystic kidney disease (PKD) is a
genetic disorder characterized by
the growth of numerous cysts in
the kidneys.
Sign and symptoms:-
• Blood in the urine, Urinary tract
infection
• Kidney stones, Drowsiness
• Nail abnormalities, Increased
abdominal guts, Kidneys will be
palpable.
Causes:-
• PKD is caused by an inherited gene.
Children have a 50% chance of
developing PKD if one parent
carries the gene.

70. Management
Most treatments for PKD treat the disease symptoms or
prevent complications. Some of these treatment
options may include: Pain medications, Antibiotics.
• Surgery—Cysts may be drained through surgery to
relieve pain, blockage, infection, or bleeding.
• Sometimes, one or both kidneys may be removed,
called a nephrectomy , if pain is severe.
• Diet—A low-protein diet may reduce stress on the
kidney.
• Dialysis and transplantation—More than half of PKD
patients develop kidney failure and require dialysis . At
this stage, dialysis will be a lifelong requirement unless
a kidney transplant from a donor can be arranged and
performed successfully.

71. Hypospadias:-
Hypospadias is a birth defect of the penis that commonly has four characteristics:
• The urethral opening is located on the underside of the penis, instead of the
tip, and may exit the penis anywhere along its shaft as high as the scrotum.
• The urethral opening is unusually narrow.
• The entire foreskin may be bunched on the topside of the penis.
• The penis itself may be curved to one side.
Causes:-
• The causes of hypospadias are unknown. There seems to be a genetic
association, since a baby boy with a family history of hypospadias is slightly
more likely to be born with the condition.
Treatment:-
• Hypospadias is treated with surgery, usually when the child is between six and
18 months old.
• The aims of surgery include repositioning the urethral opening at the tip of the
penis, removing the abnormal foreskin (which gives a circumcised
appearance), and correcting the bend in the penis (if it is present) to allow
sexual function.
.

72. Cryptorchidism
• The condition in which the testes failed to descend into the scrotum
and are retained within the abdomen or inguinal canal
Causes:-
• About five per cent of all boys are born with this condition.
Premature and low birth weight babies are at increased risk.
Sign and symptoms:-
• Scrotum is empty on the affected side. Sometimes, the scrotum is
empty on both sides. The condition is painless. Urination is not
affected.
Treatment:-
• Operation of orchidopexy is necessary to bring testes into the
scrotum before puberty.

73. INTERSEX
• Intersex is a general term used for a variety of conditions
in which a person is born with a reproductive or sexual
anatomy that doesn‘t seem to fit the typical definitions of
female or male. For example, a person might be born
appearing to be female on the outside, but having mostly
male-typical anatomy on the inside.
Causes:-
They can be roughly divided into prenatal (before birth) and
postnatal. The most frequent and disturbing of postnatal
causes are circumcision accidents that result in the
permanent loss of an infant boy‘s penis.
• Prenatal causes of intersex conditions include many
genetic and chromosomal conditions.
Management: Ideally, a team of health care professionals
with expertise in intersex should work together to
understand and treat the child with intersex -- and to
understand, counsel, and support the entire family.
• Surgical correction: It is considered easier to reconstruct
female genitalia than functioning male genitalia

74. AMBIGIUOUS GENITALIA
• Ambiguous genitalia is a birth defect where the outer
genitals do not have the typical appearance of either a
boy or a girl.
Sign and Symptoms:-
• Usually, ambiguous genitalia in genetic females
(babies with two X chromosomes) has the following
features: An enlarged clitoris that looks like a small
penis The urethral opening (where urine comes out)
can be along, above, or below the surface of the
clitoris. The labia may look like a scrotum The infant
may be thought to be a male with undescended
testicles
• n a genetic male (one X and one Y chromosome),
ambiguous genitalia usually include the following
features: A small penis (less than 2-3 centimeters or
0.8-1.2 inches) that looks like an enlarged clitoris The
urethral opening may be along, above, or below the
penis. There may be a small scrotum that is separated
and looks like labia. Undescended testicles commonly
occur with ambiguous genitalia.

75. Management
• Medications: Hormone medications may help correct the
hormonal imbalance. In some children, hormones may be
administered shortly after birth and may be the only
treatment necessary.
• Surgery: In children with ambiguous genitalia, surgery may
be used to:
• Preserve normal sexual function
• Create more natural-looking genitals
• For girls with ambiguous genitalia, the sex organs often
work normally despite the ambiguous outward appearance.
If a girl's vagina is hidden under her skin, surgery in
childhood can help with sexual function later. For boys,
surgery to reconstruct an incomplete penis may improve
appearance and make erections possible.

76. CONGENITAL ADRENAL HYPERPLASIA
Congenital adrenal hyperplasia refers to a group of inherited disorders
of the adrenal gland. It is an autosomic recessive condition.
Causes:-
• People have 2 adrenal glands, one located on top of each of their
kidneys. These glands make hormones, cortisol and aldosterone,
that are essential for life. People with congenital adrenal
hyperplasia lack an enzyme the adrenal gland needs to make the
hormones. At the same time, the body produces more androgen, a
type of male sex hormone. This causes male characteristics to
appear early (or inappropriately).
Sign and symptoms:-
• Symptoms will vary, depending on the type of congenital adrenal
hyperplasia . Girls with a more severe form often have abnormal
genitals at birth and may be diagnosed before symptoms appear.
• Boys will appear normal at birth even if they have a more severe

77. Girls with the milder form will usually have normal female reproductive
organs (ovaries, uterus, and fallopian tubes). They may also have the
following changes:
• Abnormal menstrual periods or failure to menstruate
• Early appearance of pubic or armpit hair
• Excessive hair growth or facial hair
• Failure to menstruate
Boys with the milder form often appear normal at birth. However, they
may appear to enter puberty early. Symptoms may include:
• Deepening voice
• Early appearance of pubic or armpit hair
• Enlarged penis but normal testes
• Well-developed muscles
• Both boys and girls will be tall as children but much shorter than
normal as adults.
• Management: The goal of treatment is to return hormone levels to
normal, or near normal. This is done by taking a form of cortisol, most
often hydrocortisone
• Girls with male-looking genitals may have surgery during infancy to
correct the abnormal appearance.

78. Blood disorders
• Thalassemia
• Hemophilia
• Sickle cell Anemia
• Congenital spherocytosis

79. Metabolic disorders
• Cystic fibrosis
• G6PD Deficiency
• Phenylketonuria
• Congenital lactose intolerance
• Glycogen storage diseases
• Wilson’s disease
• Inborn errors of metabolism,etc

80. Endocrinal abnormalities
Congenital
hypopituitarism(Dwarfism)
Congenital Goitre

81. Endocrinal disorders
OTHERS:
• Congenital hypothyroidism(cretinism)
• Congenital adreno genital hyperpalsia
• Diabetes mellitus

82. Chromosomal abnormalities
• Down’s syndrome(Trisomy-21)

83. Chromosomal abnormalities
• Edward’s syndrome

84. Chromosomal abnormalities
OTHERS:
• Turner’s syndrome
• Klinefelter’s syndrome

85. Miscellaneous
• Many congenital anomalies do not fit into particular
categories of either metabolic or chromosomal
disorders or to a specific system.
• They may found as a single defect or a syndrome. It
includes:
1.Congenital cataract,
2.congenital glaucoma,
3.color blindness,
4.congenital deafness,
5.Mental retardation
6.Congenital biliary atresia,etc

86. Miscellaneous
Microagnatha

87. Cleft lip and cleft palate
CLEFT LIP
• The congenital deformity of a cleft in the upper
lip, on one or both sides of the midline.
CLEFT PALATE
• A fissure in the midline of the palate due to
failure of the two sides to fuse in embryonic
development.
• It may be accompanied by a cleft lip and
disturbance of tooth formation .

91. Prevention
• Genetic counseling
• It is a problem solving approach or
communication process in relation to genetic
disorders or congenital anomalies in the family.
• It is non-directive information to the individual or
family who discuss the importance to their own
situations.
• It is of two types. They are
a. Prospective genetic counseling
b. Retrospective genetic counseling

92. Genetic counseling
Prospective genetic counseling:
• It is for true prevention of disease
• It aims at preventing or reducing heterozygous marriage by
screening procedures and explaining the risk of affected
children.
Retrospective genetic counseling:
• It is done after a hereditary disorder has already occurred.
Methods:
a) Contraception
b) MTP
c) Sterilization

93. Prevention
• Discourage consanguineous marriages
• Avoid late marriage and pregnancy > 35 years
• Promotion of health of girl child and pre pregnant health
status of the females by prevention of
malnutrition,anemia,folic acid deficiency,iodine
deficiency,etc.
• Encourage the immunization of all female child by MMR.
• Protection of individuals & whole communities against
mutagens (X-ray,drugs ,alcohol)
• Immunization by anti-D immunoglobin to the Rh-negative
mothers after abortion.
• Elimination of active and passive smoking of tobacco by
mothers.

94. Prevention
• Avoidance of drug intake without consulting physician
in the first trimester of pregnancy.
• Prevention of intrauterine infections and promotion of
sexual hygiene.
• Efficient antenatal care.
• Promotion of therapeutic abortion after prenatal
diagnosis.
• Discouraging reproduction after birth of a baby with
congenital anomalies.
• Increasing public awreness about the risk factors and
etiological factors of congenital anomalies and their
preventive measures.