Chapter 6: Congenital diseases and disorders

chiari malformation

back portion of the brain is pushed through the hole in the bottom of the skull into the cervical spinal canal

reflux

backward flow

omphalocele

birth defect in which the infant's intestines or other abdominal organs poke through the navel when the abdominal wall does not close properly

hematuria

blood in the urine

cyanosis

bluish color of the skin

congenital heart defects

broadly classified according to weather or not poorly oxygenated blood entering from the veins mixes into the heart with the freshly oxygenated blood re entering the systemic circulation

ureterocele

bulging of a ureter into the urinary bladder

cyanotic defects

cause the oxygen rich blood and the poor oxygen blood to mix, allowing less oxygen rich blood to reach the body tissues

tourette syndrome

causes individual to make repeated involuntary sounds or tics and movements

Atelectasis

collapsed lung

tetralogy of fallot

combination of four congenital heart defects: 1) pulmonary stenosis 2) VSD 3) dextroposition 4) right ventricular hypertrophy

meninges

covering the brain and spinal cord

Ataxic CP

difficulty with balance and coordination

hydroureter

distention of the ureter with fluid due to obstructed outflow

duplicated ureter

each kidney has two ureters rather than one

Phenylketoneuria (PKU)

enzyme phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, body accumulates blood and urine and is toxic to the brain

FASD

fetal alcohol spectrum disorder

meconium

first stool of the newborn

anastomosis

formation of a connection of the ureter

sickle cell anemia

hereditary, chronic anemia in which abnormal sickle or crescent shaped red blood cells are present. rbcs clump tend to clump together within capillaries

spastic cerebral palsy

hyperactive reflexes, rapid muscle contraction, muscle weakness, spasticity, and underdevelopment of limbs

volvulus

if the intestine becomes twisted, blocking the blood flow, damage to the intestines occurs

dystonia

impaired muscle tone

spina bifida

incomplete closure of one or more vertebrae

meningocele

incomplete closure of the vertebra is accompanied by a protrusion of the spinal fluid and meninges into an eternal sac

hypertrophy

increase in size or volume of an organ or other body structure

Down Syndrome (Trisomy 21)

infant has three chromosomes 21 rather than 2

the most common types of teratogens

infectious disease, physical agents such as radiation, drugs, and chemicals

parasympathetic

involuntary

peristalsis

involuntary wavelike contraction occurring the walls of the hollow tubes of the body

cystic fibrosis

life-threatening congenital disorder of the exocrine glands characterized by the production of copious amounts of abnormally thick mucus, especially in the bronchus and the lungs

auscultation

listening to sounds produced by the internal organs

exstrophy of the bladder

lower portion of the abdominal wall and the anterior wall of the bladder are missing

coarctation of the aorta

malformation in a portion of the aorta wall that causes narrowing of the aortal opening

ganglion cells

masses of nervelike cell bodies in the colorectal walls

syndrome

multiple birth defects that have a similar cause

associations

multiple birth defects that have no similar cause

pyloric stenosis

narrowing of the pylorus, the opening from the stomach into the small intestine

clubfoot (talipes)

nontraumatic, frequently occurring congenital deformity in which the foot is permanently bent

epitaxis

nosebleed

noncommunicating hydrocephalus

obstruction of csf flow

fetal alcohol syndrome

occur when the mother drinks excessive amounts of alcohol during her pregnancy

cleft lip

one or more clefts in the upper lip

stenosis of ureter

one ureter is tightened or partially closed

cerebral palsy

permanent, bilateral, symmetrical ,nonprogressive paralysis resulting from developmental defects of the brain or from trauma

congenital bladder diverticulum

pouching out of bladder wall

congenital disease

problems that are present at birth even if they dont exhibit until later

duchenne muscular dystrophy

progressive wasting of skeletal muscles

nephrectomy

removal of a kidney

patent ductus arteriosus

resulting from the failure of the ductus arteriosus (a connection between the aorta and the pulmonary artery in the fetus to close after birth)

nystagmus

rhythmic, involuntary movement of the eyeball

four basic forms of talipes:

1) talipes varus 2) talipes valgus 3)talipes equinus 4)talipes calcaneus

transposition of the great arteries

a condition in which the two major arteries of the heart are reversed

cleft palate

a hole in the middle of the roof of the mouth

transesophageal fistula

abnormal connection between the esophagus and the trachea, where there are normally two separate canals

atrial septal defect

abnormal opening between the right and left atria

ventricular septal defect

abnormal opening between the wall or septum of the right and left ventricles

hypospadias

abnormal opening of the male urethra onto the undersurface of the penis or of the female urethra into the vagina

congenital hip dysplasia

abnormality of the hip joint that may take three forms: 1) unstable hip dysplasia, 2) incomplete dislocation 3) complete dislocation

microcephaly

abnormally small head

excoriated

abrasion of the skin or surface of any organ

Anoxia

absence of oxygen

teratogen

agents, such as chemicals and viruses, that can reach the embryo or fetus during prenatal development and cause harm

Lumen

aortal opening

Athetoid Cerebral Palsy

slow, writhing involuntary movements

bronchioles

smallest branches of the bronchi

fontanels

soft spots

three types of cerebral palsy:

spastic, athetoid, ataxic

hydronephrosis

swelling of the renal pelvis of the kidney with urine

esophageal atresia

the esophagus does not from completely creating two canals- one to the stomach and one to the throat

undescended testes

the failure of testes to descend into the scrotal sac from the abdominal cavity

malrotation with volvulus

the intestine becomes a part of the abdomen at about the 10th week if pregnancy and makes two turns, if the turns do not occur, this results

Chyme

the nearly liquid mixture of partially digested food and gastric secretions

hirschsprung disease

the obstruction and dilation of the colon with feces because the large intestine lacks nerve cells to create adequate intestinal motility

epigastrium

the region of the abdomen over the pit of the stomach

retrocaval ureter

the right ureter passes behind the inferior vena cava before entering the urinary bladder

tricuspid atresia

the valve between the right atrium and the right ventricle fails to develop

septum

the wall separating the right and left ventricles of the heart

hydrocephalus

too much cerebrospinal fluid in the ventricles of the brain

Toxemia

toxins in the blood

acyanotic defects

when the blood flows from the left side of the heart to the right side of the heart due to a hole in the intraventricular septum