- require medical or surgical intervention to improve quality of life
- serious cosmetic effects
Noonan Syndrome: Minor anomalies and example - ANSWER - cosmetic
consequences
- 4% of population have these; more common than major
- several minor anomalies lead to a diagnosis
ex: Clinodactyly
- pinkie finger curves outward
- common in people with Trisomy 21 (D.S.)
Define malformation and example - ANSWER = Developmental defect
occurring in utero
- can be genetic or environmental factors
ex: Cleft lip or palate (failure of tissue to fuse together in fetal development)
Define deformation and example - ANSWER = effect of physical or
mechanical force that prevents proper growth of a structure that would have
, normally developed
ex: Twins/multiples
- usually smaller
Define disruptions and examples - ANSWER = normal development process
is disrupted by some factor that results in destruction of the tissue
ex: Prenatal drug exposure, prenatal trauma, infections
Define dysplasia and example - ANSWER = change in shape of organization
of cells that is common in single gene disorders
ex: Ectodermal dysplasia
Define syndrome vs sequence and example - ANSWER syndrome= collection
of features with consistent patters with same cause
ex: in Trisomy 21 there are common features that majority of other people
with 21 also have
sequence= one particular issue/anomaly there is a domino-like effect causing
another problem, then another, and another
ex: Pierre Robin Sequence (small jaw resulting in trouble with cleft palate and
lip development due to decreased room- also respiratory issues since tongue
development may also be interfered)
What is an association? - ANSWER = a collection of features that occur
together but the features relationships are UNCLEAR
- associations can become into sequences or syndromes
Define gestalt - ANSWER = overall impression, looking at all the pieces
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