Achondroplasia

 Achondroplasia is a rare genetic condition caused by alterations in the FGFR3 gene. It occurs in approximately 1 in every 15,000 to 40,000 births worldwide.

It is transmitted in an autosomal dominant fashion, meaning only one altered copy is needed to cause the condition. Most cases occur in individuals with no family history of achondroplasia.

Characteristics

Patients present with short stature, shorter upper and lower limbs in relation to the torso, a prominent forehead, and trident hands.

Additionally, they may present with respiratory problems and spinal cord compression.

Diagnosis

Diagnosis is suspected based on a physical examination and imaging tests and is confirmed by genetic testing that identifies the mutation in the FGFR3 gene.

Treatment

Treatment of achondroplasia is multidisciplinary, with frequent follow-up.

Recently, ANVISA (Brazilian Health Regulatory Agency) approved the drug Vosorotide (VOXZOGO), which aims to increase the growth rate of patients with achondroplasia from 2 years of age. The medication must be prescribed and monitored by a geneticist and a specialized team.

Services for people with achondroplasia and rare diseases

If you have already been diagnosed with achondroplasia or a rare disease, or if you have symptoms and/or characteristics of a pathology, contact Casa Hunter. The institution will assist you from obtaining a correct and specific diagnosis to defending your rights with the SUS (Brazilian Unified Health System) and/or health plans, ensuring quality treatment.

Casa Hunter has a team of qualified professionals and a department specialized in administrative processes that seek access to your rights. The service is free of charge.