Treatment of Achondroplasia

Treatment of Achondroplasia
Hydrocephalus: If signs/symptoms of increased intracranial pressure arise (accelerated head growth, bulging fontanelle, vision changes, headache), referral to a neurosurgeon is required. Computerized tomography (CT) or magnetic resonance imaging (MRI) of the brain in infancy may be done to determine the presence of hydrocephalus.

Craniocervical junction constriction: Predictors of the need for suboccipital decompression require evaluation by a medical professional. Indication of symptomatic compression requires urgent referral to a neurosurgeon.

Obstructive sleep apnea: Can be treated with weight reduction, surgery to remove tonsils and adenoids (adenotonsillectomy), positive airway pressure, and, rarely, surgery to create an opening in the neck (tracheostomy).
Middle ear dysfunction: Ear tubes may be needed until the age of seven or eight to manage frequent middle ear infections and prevent potential hearing loss.

Short stature: Studies on the use of growth hormone have shown initial acceleration of growth, but with lessening effect over time and little lasting benefit.

Obesity: Measures to avoid obesity should begin in early childhood. Standard weight-by-height grids specific for achondroplasia should be used to monitor progress.

Varus deformity: Symptomatic bowing of the legs (varus deformity) requires referral to an orthopedist. However, asymptomatic bowing does not usually warrant surgical correction.

Spinal deformities: Preventive measures including prohibition of unsupported sitting in the first 12-18 months of life decrease risk of developing a fixed backwards curve in the mid-spine (kyphosis). Bracing or surgery may be necessary, depending on the degree of severity of such a deformity if preventive measures are unsuccessful.

Spinal stenosis: If signs/symptoms of spinal stenosis arise, urgent surgical referral is appropriate.

Immunization: All routine immunizations are necessary.
Adaptive needs: Environmental modifications of the home and school may be necessary to accommodate for short stature.

Socialization: Patients with achondroplasia may encounter difficulties in socialization and school adjustment. Support groups can help assist families with these issues through peer support, personal example, and social awareness programs.

Adjuvant Treatment


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