Transcript Cleft Lip or Palate

Cleft Lip or Palate
Cleft Lip
• A facial cleft occurs when parts of the lip or
palate do not completely fuse together during
the first 3 months of pregnancy. A cleft lip may
appear as a small notch in the edge of the lip
only or extend into the nose. It may also
extend into the gums.
Club Foot
Club Foot
• Clubfoot is a birth defect that causes one or
both of a baby's feet to turn inward and
downward, giving the foot or feet a club-like
appearance.
• Treatment usually involves a series of casts
and braces to gradually move the foot into the
right position. In rare cases, surgery might be
required.
Cystic Fibrosis
Cystic Fibrosis (CF)
• Cystic fibrosis (CF) is a genetic disorder that
affects the lungs and digestive system. More
than 30,000 kids, teens, and young adults in
the United States have CF.
• The CF gene disrupts the essential balance of
salt and water needed to maintain a normal
thin coating of fluid and mucus inside the
lungs, pancreas, and other organs.
Down Syndrome
Down Syndrome
• Down syndrome (DS), also called Trisomy 21,
is a condition in which extra genetic material
causes delays in the way a child develops,
both mentally and physically. It affects about 1
in every 800 babies born in the United States.
• The physical features and medical problems
associated with Down syndrome can vary
widely from child to child.
Huntington’s Chorea
Huntington’s Chorea
• Huntington's disease is an inherited disease
that causes the progressive breakdown
(degeneration) of nerve cells in the brain.
Huntington's disease has a broad impact on a
person's functional abilities and usually results
in movement, thinking (cognitive) and
psychiatric disorders.
Klinefelter’s Syndrome
Klinefelter’s Syndrome
• A genetic condition that results when a boy is
born with an extra copy of the X chromosome.
Klinefelter syndrome is a common genetic
condition affecting males.
• Klinefelter syndrome adversely affects testicular
growth, and this can result in smaller than normal
testicles. This can lead to lower production of the
sex hormone testosterone. Klinefelter syndrome
may also cause reduced muscle mass, reduced
body and facial hair, and enlarged breast tissue.
The effects of Klinefelter syndrome vary.
Neural Tube Defect
Neural Tube Defect
• An NTD is an opening in the spinal cord or brain
that occurs very early in human development.
The early spinal cord of the embryo begins as a
flat region, which rolls into a tube (the neural
tube). When the neural tube does not close
completely, an NTD develops. NTDs develop
before most women know they are even
pregnant.
• Open NTDs occur when the brain and/or spinal
cord are exposed at birth through a defect in the
skull or vertebrae (back bones).
Neurofibromatosis
Neurofibromatosis
• Neurofibromatosis (NF) can affect many parts of
the body, including the brain, spinal cord, nerves,
skin, and other body systems. NF can cause
growth of non-cancerous tumors on nerve tissue,
producing skin and bone abnormalities.
• NF is defined by tumors, that grow along nerves
in the body or on or under the skin. As the
tumors increase in size, they can press on vital
areas of the body, causing problems in the way
the body functions.
Phenylketonuria (PKU)
Phenylketonuria
• (fen-ul-ke-toe-NU-re-uh) is a birth defect that
causes an amino acid called phenylalanine to
build up in your body.
• Phenylketonuria is caused by a mutation in a
gene that helps create the enzyme needed to
break down phenylalanine.
• Symptoms include: skin rashes, hyperactivity,
mental retardation, odor of the breath/urine.
Sickle Cell Anemia
Sickle Cell Anemia
• Sickle cell disease is an inherited disorder in
which red blood cells (RBCs) are abnormally
shaped. This abnormality can result in painful
episodes, serious infections, chronic anemia,
and damage to body organs.
Spina Bifida
Spina Bifida
• Spina bifida is a birth defect that involves the
incomplete development of the spinal cord or its
coverings. The term spina bifida comes from Latin
and literally means "split" or "open" spine.
• Spina bifida occurs at the end of the first month
of pregnancy when the two sides of the embryo's
spine fail to join together, leaving an open area.
In some cases, the spinal cord or other
membranes may push through this opening in
the back.
Tay-Sachs Disease
• Healthy babies develop vision, movement,
hearing, and other vital functions in part because
enzymes clear out fatty protein and other
unwanted material that can interfere with
growth.
• But a baby with Tay-Sachs disease is born without
one of those important enzymes,
Hexosaminidase A (Hex A). So, as those fatty
proteins build up in the brain, they hurt the
baby's sight, hearing, movement, and mental
development
Thalassemia
• Thalassemia’s are a group of blood disorders
that affect the way the body makes
hemoglobin, a protein found in red blood cells
that is responsible for carrying oxygen
throughout the body.
• With thalassemia, the red blood cells are
destroyed at a faster rate, leading to anemia, a
condition that can cause fatigue and other
complications.