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GENETIC DISORDER PRESENTATION

wHAT IS DWARFISM?

Dwarfism is a genetic disorder that causes a condition of short stature.

There are 2 types of dwarfism:

  • Disproportionate
  • Proportionate

Disproportionate Dwarfism:

an individual characterized with an average sized torso and shorter (limbs) arms and legs OR a smaller torso and longer (limbs) arms and legs

Proportionate Dwarfism:

All body parts are proportional, however, shortened.

Dwarfism can be caused by many factors. Such factors often split between Proportionate and Disproportionate dwarfism.

  • Proportionate Dwarfism is caused by metabolic or hormonal disorders such as hormonal growth deficiency.

Skeletal Dysplasis

  • Caused by genetic mutation - can occur spontaneously or be inherited by an individual

There are many forms of Skeletal Dysplasia; the most common form is called ACHONDROPLASIA DWARFISM

Sometimes dwarfism is not evident until an individual reaches 5-10 years of age in which signs and symptoms become more evident.

Signs usually result for the most common form of dwarfism which is: Achondroplasia

PROGNOSIS

The prognosis of people with achondroplasia dwarfism depends on the severity of their condition.

  • In 2-5% of all cases, newborns do not survive past 12 months after birth
  • this is often in the case of severe achondroplasia dwarfism
  • otherwise, most people with the condition should expect to live the average lifespan.

thanks for listening!

The most common form of dwarfism is "skeletal dysplasias" which is a genetic disorder that essentially causes disproportionate dwarfism.

What causes

Dwarfism?

There are many different forms of skeletal dysplasias.

ON THE OTHER HAND....

BIANCA BALUT

Achondroplasia

  • is inherited in a dominant manner
  • Oftentimes, parents do not carry the mutated gene, but occurs spontaneously during conception
  • Doctors are unaware of what causes the gene mutation to occur

Doctor Diagnosis

Signs or Symptoms

Treatment

Early diagnosis and treatment can help prevent or lessen problems associated with dwarfism.

In most cases, individuals with dwarfism have medical or orthopedic complications, and may require physiotherapy

to help their muscles increase joint and range in motion.

  • Some forms of dwarfism are evident at birth through x-rays or physical examinations

DWARFISM

Achondroplasia diagnosis can be confirmed through genetic tests

Some signs or symptoms that indicate potential dwarfism in a child are:

  • susceptibility to ear infections
  • curvature of the spine
  • bowed legs
  • joint stiffness and arthritis
  • lower back pain or numbness
  • breathing disorders

in some cases, prenatal testing takes place as well

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