Meyahealth
Home
ENES
HomeGeneticsGeneFGFR3 gene
Back to Gene

FGFR3 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FGFR3 gene

The FGFR3 gene provides instructions for a protein that regulates bone growth and skin cell development, with mutations often leading to skeletal and skin-related disorders.

Normal Function

The FGFR3 gene provides instructions for making the fibroblast growth factor receptor 3 protein. This protein regulates cell growth, division, and maturation. A key function of the FGFR3 protein is to regulate bone growth by limiting the conversion of cartilage to bone (ossification). Specific isoforms of this protein are also found in epithelial cells, including those in the epidermis of the skin.

Health Conditions Related to Genetic Changes

Mutations in the FGFR3 gene are linked to several skeletal and skin conditions:

  • Achondroplasia: The most common form of short-limbed dwarfism, caused by mutations that make the receptor overly active.
  • Hypochondroplasia: A milder form of short-limbed dwarfism.
  • Thanatophoric dysplasia: A severe skeletal disorder characterized by extremely short limbs and a narrow chest.
  • Crouzon syndrome with acanthosis nigricans: Causes craniosynostosis and thick, dark, velvety skin.
  • Muenke syndrome: Causes craniosynostosis, hearing loss, and developmental delays.
  • SADDAN: A severe condition involving short-limb dwarfism, developmental delay, and acanthosis nigricans.
  • Epidermal nevus: Somatic mutations (acquired during a lifetime) can cause abnormal skin growths.
  • Lacrimo-auriculo-dento-digital (LADD) syndrome: Caused by mutations that disrupt normal cell signaling.

Cancers

Somatic variants in the FGFR3 gene are associated with bladder cancer, cervical cancer, and multiple myeloma. These mutations typically overactivate the FGFR3 protein, directing cells to grow and divide uncontrollably.

Other Names for This Gene

  • ACH
  • CD333
  • FGFR-3
  • fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
  • HBGFR
  • JTK4

Frequently Asked Questions

Many skeletal conditions linked to FGFR3 mutations, such as achondroplasia, are inherited in an autosomal dominant pattern. This means only one copy of the altered gene in each cell is sufficient to cause the disorder. If one parent has achondroplasia, there is a 50% chance with each pregnancy that their child will inherit the condition. In many cases, achondroplasia results from a new mutation in individuals with no family history.
The FGFR3 gene is associated with both inherited skeletal disorders and certain cancers, but the mechanisms are generally different. The mutations causing skeletal disorders are typically germline (present in all cells and inherited), while the FGFR3 mutations linked to cancers like bladder cancer, cervical cancer, and multiple myeloma are usually somatic (acquired during a person's lifetime in specific cells and not inherited). Therefore, having an inherited FGFR3 mutation for a skeletal disorder does not inherently mean you have a higher risk for these specific cancers, unless otherwise indicated by your doctor.
Diagnosis often begins with a clinical evaluation based on characteristic physical features and imaging studies like X-rays to assess skeletal abnormalities. Confirmation usually involves genetic testing, where a blood or tissue sample is analyzed to identify specific mutations in the FGFR3 gene. For prenatal diagnosis, genetic testing can be performed on amniotic fluid or chorionic villus samples.
For conditions like achondroplasia or hypochondroplasia, early signs often include disproportionately short limbs, a large head with a prominent forehead, and a flattened bridge of the nose. Thanatophoric dysplasia is much more severe and typically evident at birth with extremely short limbs and a narrow chest. Craniosynostosis (premature fusion of skull bones) can be an early sign for conditions like Crouzon syndrome with acanthosis nigricans or Muenke syndrome, sometimes leading to an abnormally shaped head.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.