Achondroplasia Kelly Boylan and Nicole Roberti

Definition  Achondroplasia is a disorder of growth. Although achondroplasia literally means "without cartilage formation," the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs.  Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs.

Symptoms  Abnormal hand appearance with persistent space between the long and ring fingers.  Bowed legs  Decrease muscle tone  Disproportional large head to body size difference  Prominent forehead

Symptoms Continued…  Shortened arms and legs  Short stature  Spinal stenosis  Spine curvatures called Kyphosis and Lordosis  Average height of male is 4ft 4in  Average height of female is 4ft 1in

Signs and Tests  During pregnancy, prenatal ultrasound may show excessive amniotic fluid surrounding unborn infant.  Examination of the child after birth.

Inheritance Pattern  Autosomal dominant trait  If one parent has it the infant has a 50% chance of inheritaning it.  Both parents= 75%  Most cases appear from spontaneous mutations

Lifetime Limitations  Breathing slows or stops for short periods  Obesity  Recurrent ear infections  Usually develop pronounced and permanent sway of lower back  Bowed legs  Difficulty walking

Type of Mutation  Mutations in the FGFR3  This gene provides instruction for making a protein that is involved in the development and maintenance of bone and brain tissue.

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