normal and abnormal development Flashcards
list some congenital abnormailties
spina bifida meningocele myelomeningocele cleft lip and palate VSD
define congenital
present at birth
define inherited
caused by a genetic abnormality passed on from parents
define acquired
caused by non-genetic environmental factors
name some growth disorders
achondroplasia
gigantisism
acromegaly
define genetic disease
inherited or prenatally acquired defects of genes
Give examples of genetic disease
sickle cell anaemia
Huntington’s disease
CF
Down’s
Give examples of polygenic conditions
breast cancer
A congenitital disease can be one of two things…
genetic or acquired
give examples of multifactorial conditions
infectious diseases cleft-lip and palate spina bifida alpha 1 antitrypsin breast cancer alzheimers DM osteoporosis atherosclerosis
give examples of acquired conditions
FAS - foetal alcohol syndrome
physical injury - heat/cold, trauma,
radiation injury
chemical agents - toxic substances, pollution, industrial materials, drugs, smoking, dust
Give causes of reduced growth
reduced GH production due to hypopituitarism
reduced growth hormone receptors
inhibition of growth by corticosterooids
mutation in the COL2A1 (type II collagen) gene
mutation in fibroblast growth factor receptor 3 gene
Downs, Turner’s (proportionate alterations)
achondroplasia (disproportionate)
poor nutrition eg due to placental disorders, Kwashoirkor, marasmus
uterine size
maternal smoking
FAS
maternal drug abuse
some chronic disease
give a cause of increased growth
increased GH secretion from a pituitary adenoma
name some multifactorial disease of growth and development
anenchephaly
spina bifida
hydrocephalus
cleft lip and palate
name some anomalies of organogenesis
agenesis atresia hypoplasia maldifferentiation ectopic
