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FZD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FZD2 gene

The FZD2 gene plays a critical role in prenatal development, particularly in the formation of the skeleton and other body structures.

Normal Function

The FZD2 gene provides instructions for making a protein that plays a critical role in development before birth. The FZD2 protein interacts with other proteins (including those produced from the DVL1, DVL2, and DVL3 genes) in chemical signaling pathways called Wnt signaling.

These pathways control the activity of genes needed at specific times during development and regulate the interactions between cells when organs and tissues are forming. As a key part of Wnt signaling, the FZD2 protein is thought to be important for the normal development of the skeleton and potentially other parts of the body.

Health Conditions Related to Genetic Changes

Robinow syndrome

At least four mutations in the FZD2 gene have been found to cause autosomal dominant Robinow syndrome, a condition that affects the development of many parts of the body, particularly the skeleton. Features of this condition include:

  • Short stature
  • A particular pattern of facial characteristics
  • Shortening of the long bones in the arms and legs
  • Short fingers and toes (brachydactyly)

These mutations are thought to alter or remove a region of the protein that is needed for its interaction with DVL proteins, which impairs Wnt signaling. Problems with Wnt signaling pathways disrupt the development of many organs and tissues before birth, leading to Robinow syndrome.

Other Names for This Gene

  • frizzled 2, seven transmembrane spanning receptor
  • frizzled family receptor 2
  • frizzled homolog 2
  • frizzled-2 precursor
  • fz-2
  • Fz2
  • fzE2
  • hFz2

Frequently Asked Questions

Regular orthopedic evaluation is essential to track limb length, joint alignment, and scoliosis. Dental and craniofacial assessments help manage dental crowding and airway issues. Cardiac screening (echocardiogram) is advised because some patients develop congenital heart defects. Growth charts and endocrine review are also recommended to address short stature and possible hormonal needs.
blood sample (or sometimes saliva) is sent for DNA sequencing of the FZD2 gene. The lab looks for specific point mutations or small deletions that disrupt the protein’s DVL‑binding region. In some cases, targeted panel testing for skeletal dysplasia genes or whole‑exome sequencing is performed if the initial test is negative.
Yes. If a known pathogenic FZD2 variant is identified in a parent, chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) can be used to test fetal DNA for the same change. Results allow families to discuss prognosis, perinatal planning, and, where legal, options such as continuation of pregnancy or termination.
Robinow syndrome caused by FZD2 is autosomal dominant, meaning each child of an affected individual has a 50 % chance of inheriting the mutation, regardless of sex. The mutation can be inherited from an affected parent or arise de novo (new) in the child.
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.

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