Achondroplasia - Disorder of Bone Growth

Most common cause of disproportionate stature

Caused by a mutation of the gene that makes FGFR3

FGFR3 makes a protein that is involved in the development of cartiage to bone

Symptoms

Abnormal bone growth

Short stature with disproportionately short arms and legs

Short fingers

Large head

Prominent forehead and mid-face hypoplasia

Infants

Weak muscle tone

Delays in motor skills such as walking

Compression of Spinal Cord and Upper Airway

Increased risk of death

Apnea

Obesity

Recurrent Ear infections

Sway of lower back and bowed legs

Diagnosed by clinical testing and X-rays

Treatment

No specific treatment

Monitor growth

Evaluate Muscle weakness

Evaluate Spinal Compression

Breathing issues

Remove Tonsils, Adenoids

CPAP Machine

Tracheostomy

Suboccipital Decompression Surgery

Decreases pressure on the brain