Human pathology chapter 6 congenital diseases and disorders
talipes varus
inversion or bending inward
Ataxic Cerebral Palsy
10% a type of cerebral palsy that is characterized by poor balance and equilibrium in addition to uncoordinated voluntary movement.
Spastic Cerebral Palsy
70% Hyperactive reflexes, rapid muscle contraction, muscle weakness, spasticity, and under developed limbs. Walk on their toes, crossing 1 foot in front of the other.
What are the two types of orofacial clefts?
Cleft lip and cleft palate
Malrotation with volvulus
During embryonic development the intestine makes two turns, if the turn do not occur then malrotation results. A volvulus is the result of the intestine being twisted and blocking the blood flow, thus damaging the intestine.
The abbreviation TEF is used for what disorder
Tracheoesophageal fistula
talipes calcaneus
dorsiflexion with toes higher than the heel
What is the characteristic symptom of pyloric stenosis
projectile vomiting
Athetoid Cerebral Palsy
20% slow, writhing involuntary movements
What do you recall about cerebral palsy
A neurological assessment is the first common diagnostic tool
Localized narrowing of the aorta
Coarctation of the aorta
Tracheoesophageal fistula (TEF)
Congenital defect resulting in a connection between the esophagus and trachea. Causes frothy white bubbles in the mouth.
What is the congenital disease that affects only males
Cryptorchidism
duplicated ureter
Each kidney has two ureters rather than one
What is the classic symptoms of Tourette's syndrome
Facial tics
undesended testes (cryptorchidism)
Failure of the testes to descend into the scrotal sac from the abdominal cavity, can be unilateral or bilateral.
unstable hip dysplasia
Hip is positioned normally but can be dislocated by manipulation
Can you name the signs and symptoms of cystic fibrosis
Intestinal obstruction and wheezy respiration
How might you describe the omphalocele
It is a birth defect in which the umbilical cord comes out of the navel
What do you know about fetal alcohol syndrome
It is totally preventable
Incomplete closure of vertebrae with protrusion of spinal fluid and meninges into the sac
Meningocele
External sac that contains meninges, cerebrospinal fluid, and a portion of the cord and nerve roots
Meningomyelocele
The failure of the fetal ductus arteriosus to completely close
Patent ductus arteriosus
cerebral palsy
Permanent, bilateral,symmetrical, nonprogressive paralysis resulting from developmental defect of the brain or from trauma during or after the birth process.
Describe the treatment for PKU
Protein restrictive diet for life
A complete closure of one or more vertebrae
Spina bifida
What is known about cleft lip and cleft palate
The defect may occur singly or togetherand vary in severity
cleft lip
a birth defect in which there is a deep groove of the lip running upward to the nose as a result of the failure of this portion of the lip to close during prenatal development
Tourette syndrome
a complex neurological disorder characterized by involuntary tics, grunts, and compulsive utterances that sometimes include obscenities
Down Syndrome (Trisomy 21)
a genetic disorder caused by a trisomy of the twenty-first chromosome
sickle cell anemia
a genetic disorder that causes abnormal hemoglobin, resulting in some red blood cells assuming an abnormal sickle shape. Red blood cells tend to clump together within capillaries, impairing circulation, damaging blood vessels, and causing chronic organ damage.
Abnormal opening between the two atria
atrial septal defect
esophageal atresia
congenital lack of the connection between esophagus and stomach; food cannot enter stomach
talipes valgus clubfoot
eversion (bending outward)
spina bifida
failure of one or more vertebral arches to close during fetal development
complete dislocation
femoral head is totally outside the acetabulum
Prevention of neural tube defects
folic acid
omphalocele
herniation at the umbilicus (a part of the intestine protrudes through the abdominal wall at birth)
pyloric stenosis
narrowing of the opening of the stomach to the duodenum. Prevents chyme from flowing into the small intestine. Projectile vomit 3-4 feet.
What does PKU stand for?
phenylketonuria
Talipes equinus
plantar flexion with toes lower than the heel
myelomeningocele
protrusion of the membranes of the brain or spinal cord through a defect in the cranium or vertebral column
meningocele
the congenital herniation of the meninges through a defect in the skull or spinal column
cleft palate
the failure of the palate to close during the early development of the fetus
Abnormal opening between the right and left ventricles.
ventricular septal defect
incomplete dislocation
where the femoral head is on teh edge of the acetabulum