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VERY IMPORTANT SYNDROME
-MAKWANA JAY P
DiGeorge syndrome (DGS)
comprises thymic hypoplasia,
hypocalcaemia, outflow tract
defects of the heart, and
dysmorphic facies. It results
in almost all cases from a
deletion within chromosome
22q11
is a rare, neurodevelopmental, genetic
condition characterized by many symptoms
including unique physical features, delayed
development, cognitive challenges and
cardiovascular abnormalities
Down syndrome is a condition in
which a person has an extra
chromosome or an extra piece of
a chromosome. This extra copy
changes how a baby's body and
brain develop. It can cause both
Turner syndrome, a condition
that affects only females, results
when one of the X chromosomes
(sex chromosomes) is missing or
partially missing. Turner
syndrome can cause a variety of
medical and developmental
problems, including short height,
failure of the ovaries to develop
and heart defects.
NOONAN SYNDROME
typically a genetically inherited
disorder with heterogeneous
phenotypic manifestations that
can change with age. The most
consistent features are wide-
set eyes, low-set ears, short
stature, and pulmonic stenosis.
Noonan syndrome is typically
inherited in an autosomal
dominant manner.
is a complex condition that
affects several parts of the
body. VATER (VACTERL) is an
acronym that stands for the
affected parts of the body
including the vertebrae, anus,
heart, trachea, esophagus,
kidney and limbs.
Holt-Oram syndrome is
characterized by skeletal
abnormalities of the hands
and arms (upper limbs) and
heart problems. People with
Holt-Oram syndrome have
CHARGE syndrome (CS) refers
to a pattern of birth defects
with a wide range of
conditions that can differ
from child to child. It is rare
and affects one in each
150,000 births worldwide. CS
is a very complex syndrome
which often involves:
Colobomas (a hole in the
Alagille syndrome is a genetic
disorder in which you have
fewer bile ducts than normal
in your liver. Alagille
syndrome can be passed
from parent to child or
happen naturally. Alagille
syndrome not only affects the
liver, it can also cause skin,

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Very important syndrome.pptx

  • 2. DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11
  • 3. is a rare, neurodevelopmental, genetic condition characterized by many symptoms including unique physical features, delayed development, cognitive challenges and cardiovascular abnormalities
  • 4. Down syndrome is a condition in which a person has an extra chromosome or an extra piece of a chromosome. This extra copy changes how a baby's body and brain develop. It can cause both
  • 5. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
  • 6. NOONAN SYNDROME typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide- set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner.
  • 7. is a complex condition that affects several parts of the body. VATER (VACTERL) is an acronym that stands for the affected parts of the body including the vertebrae, anus, heart, trachea, esophagus, kidney and limbs.
  • 8. Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have
  • 9. CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in each 150,000 births worldwide. CS is a very complex syndrome which often involves: Colobomas (a hole in the
  • 10. Alagille syndrome is a genetic disorder in which you have fewer bile ducts than normal in your liver. Alagille syndrome can be passed from parent to child or happen naturally. Alagille syndrome not only affects the liver, it can also cause skin,