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