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