[7] The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur.

[8] About 80% of cases occur in children of parents without the disease, and result from a new (de novo, or sporadic) mutation, which most commonly originates as a spontaneous change during spermatogenesis.

[9] Treatments include small molecule therapy with a C-natriuretic peptide analog (vosoritide), approved to improve growth velocity in children with achondroplasia based on results in Phase 3 human trials, although its long-term effects are unknown.

[5] Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required.

Nonprofit physician organizations also exist to disseminate information about treatment and management options, including development of patient resources.

It is also common for children to have bowed legs, scoliosis, lordosis, arthritis, issues with joint flexibility, breathing problems, ear infections, and crowded teeth.

[citation needed] Some research has found that adults with achondroplasia may also experience psychosocial complications, usually associated with short stature.

[19] This gene encodes a protein called fibroblast growth factor receptor 3, which contributes to the production of collagen and other structural components in tissues and bones.

[27] A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.

[28] Clinical features include megalocephaly, short limbs, prominent forehead, thoracolumbar kyphosis and mid-face hypoplasia.

The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal.

The diagnosis can be made by fetal ultrasound by progressive discordance between the short femur length and biparietal diameter by age.

[38] Research has also shown that introducing parents of children with achondroplasia to support and advocacy groups at the time of diagnosis can improve outcomes.

[40] Resources are available to support patients and their caregivers with information that they can distribute to their physicians, who may not be familiar with the unique medical requirements of managing achondroplasia.

Physician-oriented best practice guidelines are also available to guide physicians managing the spinal disorders,[41] foramen magnum stenosis,[6] craniofacial implications,[42] pregnancy,[43] and peri-operative[44] needs of people with achondroplasia.

Gollust et al. have indicated that adults with achondroplasia tend to have lower self-esteem, annual income, educational attainment, and overall quality of life (QOL) when compared to their unaffected siblings.

However, when society rejects the condition from the start and associates it with destructive anxiety, it significantly damages the individual's self-image and leads to their social exclusion.

Thus, the author hypothesizes, an accepting environment is crucial to prevent significant suffering for individuals with achondroplasia and to ensure the best outcomes for corrective interventions, rather than perpetuating rejection.

[48] Similarly, a study conducted in Japan by Nishimura and Hanaki found that children with achondroplasia faced challenges related to their short stature, but there was no indication of psychosocial maladjustment.

They hypothesized that focusing on coping strategies and self-efficacy may play a crucial role in promoting psychological well-being among children with achondroplasia.

Support groups, online communities, and advocacy organizations can provide a sense of belonging and can help individuals with achondroplasia connect with others who understand their experiences.

In the United States, The Little People of America (LPA) is a national organization that provides support, resources, and advocacy for individuals with dwarfism, including achondroplasia.

However, histological studies in some achondroplastic dog breeds have shown altered cell patterns in cartilage that are very similar to those observed in humans exhibiting achondroplasia.