Scenario 2 The patientÃ¢s story ClinicianÃ¢s response Mrs C is concerned about her son who has achondroplasia.
Achondroplasia: a disorder of bone growth that causes the most common type of dwarfism.
In some cases physical development may be disproportionate, as in achondroplasia, but in others the parts of the body develop proportionately.
Of these, Achondroplasia is the most common, affecting about 80 percent of all little people.
An individual with achondroplasia has disproportionate short stature.
The four most common causes of dwarfism in children are achondroplasia, Turner syndrome, inadequate pituitary function (pituitary dwarfism), and lack of emotional or physical nurturance.
Achondroplasia (short-limbed dwarfism) is a genetic disorder that impairs embryonic development, resulting in abnormalities in bone growth and cartilage development.
In achondroplasia, the long bones fail to develop normally, making the arms and legs disproportionately short and stubby (and sometimes curved).
Persons with achondroplasia are 3-5 feet (91-152 cm) tall and of normal intelligence.
Achondroplasia occurs in all races and with equal frequency in males and females and affects about one in every 40,000 children.
Achondroplasia can be detected through prenatal screening.
There is no specific treatment for achondroplasia, besides treating any orthopedic problems that may arise.
Those with achondroplasia seldom reach 5 feet (1.5 m) in height.
Chiari malformations are found in several known genetic disorders such as achondroplasia, Hadju-Cheney syndrome, and Klippel-Feil syndrome.
Achondroplasia: This form of dwarfism is characterized by short stature, abnormal body proportion (limbs are shorter than normal while the torso remains of average size), and facial deformities.
The actor suffered from achondroplasia, a form of dwarfism.
Matt's wife Amy has a type of dwarfism called achondroplasia.
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