Standard Therapies
In achondroplasia, the main goal of treatment is the correction of deformities as possible and avoid serious complications.
1) Hydrocephalus:
If signs/symptoms of increased intracranial pressure occur (such as accelerated head growth, bulging fontanelle, vision changes, headache), your doctor will refer your child to a neurosurgeon. The surgeon will do a shunt surgery to relieve the pressure on the brain.
2) Constriction of the craniocervical junction:
Medical experts should evaluate the need for suboccipital decompression because it is a hard surgery with many side effects. Indication of symptomatic compression requires urgent referral to a neurosurgeon.
3) Obstructive sleep apnea:
We can treat it with weight reduction and surgical removal of the enlarged tonsils and adenoids (adenotonsillectomy). We can apply positive airway pressure, and Surgery to create an opening in the neck (tracheostomy), but it is a rare intervention.
4) Middle ear dysfunction:
We may apply ear tubes until the age of seven or eight to manage frequent middle ear infections and prevent potential hearing loss.
5) Short stature:
Studies on the effectiveness of growth hormone have shown initial acceleration of growth, but with reducing effect over time and limited lasting benefit.
6) Obesity:
Measures to avoid obesity should begin in early infancy. We should use Standard weight-by-height grids marked for achondroplasia to monitor progress.
7) Varus deformity:
Significant bowing of the legs (Varus deformity) needs a referral to an orthopedist. However, asymptomatic bowing does not warrant surgical correction.
8) Spinal deformities:
We can apply the preventive measures that include the prohibition of unsupported sitting within the first 12-18 months of life decrease the chance of developing a set backward curve within the mid-spine (kyphosis). Doctors can apply Bracing or resort to surgical procedures, depending on the degree of hardness of such a deformity and if preventive measures failed.
9) Spinal stenosis:
If signs/symptoms of spinal stenosis occur, an urgent surgical referral is acceptable.
10) Immunization:
Routine immunizations are essential to avoid any infections that may worsen the condition and affect growth and development.
11) Adaptive needs:
Environmental adjustments of the surroundings, home, and school may be required to adapt with short stature.
12) Socialization:
Patients with achondroplasia may face challenges in socialization and school adaptation. Support groups regarding these problems can help assist families with these issues throughout peer support, personal example, and social awareness programs.
