QoL Measure for Acromegaly NZ Acromegaly meeting 2014 Tania Yarndley.
acromegaly,gigantism and dwarfism
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Transcript of acromegaly,gigantism and dwarfism
ACROMEGALY, GIGANTISM AND DWARFISM
DWARFISMAlso known as growth hormone deficiency
and hyposecretion of growth hormoneA person of short statureDisproportionate body partsPituitary dwarfism1 in every 3800 births
AcondroplasiaOf all the types of Dwarfism , acondroplasia
is by for the most common typeThis type of dwarfism accounts half of all
cases
Characteristics of AcondroplasiaPeople with this type have an average size
trunk, with short arms and legs with a slightly enlarged head and prominent forehead
Most of the people with this type are born to average sized parents
The average adult height is about 4 feet tall
Dystrophic dysplasiaBefore 1960 many Doctor believed that this
type was another form of acondroplasiaLife span is normal, however there tend to be
respiratory problems at infancy and orthopedic problem which can require many surgeries.
Characteristic of dystrophic dysplasia Short limbs Cleft palate Club feet Ears with cauliflower appearance
DiagnosisDwarfism is often diagnosed in childhood on
the basis of visible symptomsA physical examination can usually suffice to
diagnose certain types of dwarfismGenetic testing and diagnostic imaging
PreventionMany types of dwarfism are currently
impossible to prevent because they are genetically caused.
Genetic testingGrowth hormone deficiency may be remedied
via injections of human growth hormone (HGH) during early life.