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GDF6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GDF6 gene

The GDF6 gene provides instructions for making a protein essential for the growth and development of bones, joints, and the retina of the eye.

Normal Function

The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which helps regulate the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family help regulate cell growth and differentiation both before and after birth. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs.

The GDF6 protein is also involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina. The GDF6 protein likely plays a role in the survival of specialized cells within the retina that detect light and color (photoreceptor cells).

Health Conditions Related to Genetic Changes

Klippel-Feil syndrome

Variants (also called mutations) in the GDF6 gene have been found to cause Klippel-Feil syndrome, a condition that is characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae) and a variety of other features that affect many parts of the body. Most of the GDF6 gene variants that cause Klippel-Feil syndrome result in the substitution of one protein building block (amino acid) for another in the GDF6 protein. This reduces the amount of normal GDF6 protein in cells. Although the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear exactly how a shortage of this protein leads to the incomplete separation and fusion of the cervical vertebrae seen in people with Klippel-Feil syndrome.

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Leber congenital amaurosis

MedlinePlus Genetics provides information about Leber congenital amaurosis.

Nonsyndromic hearing loss

MedlinePlus Genetics provides information about Nonsyndromic hearing loss.

Other disorders

Variants in the GDF6 gene can also cause multiple synostoses syndrome 4, a condition that is characterized by hearing loss and the fusion of the bones in the hands and feet. The GDF6 variants that cause this condition typically lead to the substitution of one amino acid for another in the GDF6 protein. It is unclear how changes in the GDF6 gene can affect different parts of the body.

Other Names for This Gene

  • BMP13
  • CDMP2
  • GDF-6
  • growth/differentiation factor 6
  • KFS
  • KFS1
  • SCDO4
  • SGM1

Frequently Asked Questions

The most noticeable sign is a short neck with a low hairline at the back of the head, often accompanied by limited range of motion in the neck. However, because the GDF6 gene also affects other parts of the body, clinicians often look for associated features such as hearing loss, heart defects, or kidney abnormalities. Since the fusion of cervical vertebrae can be subtle in early infancy, a combination of neck stiffness and these extra-skeletal findings typically prompts genetic testing. How does a GDF6 gene variant specifically affect the development of the spine and neck?::The GDF6 protein is critical for the proper formation and separation of the cervical vertebrae (neck bones). When a variant in this gene disrupts the protein's function, the individual vertebrae fail to separate correctly during fetal development, leading to their abnormal fusion. This structural change results in the characteristic short neck and restricted movement seen in Klippel-Feil syndrome, but it can also impact the development of the skull, ribs, and limbs, which is why patients may have skeletal issues beyond just the neck. Is Klippel-Feil syndrome caused by the GDF6 gene inherited in a predictable pattern?::Klippel-Feil syndrome is a complex condition with multiple genetic causes, including variants in the GDF6 gene. While some cases may be inherited in an autosomal dominant pattern, many cases arise from new (de novo) mutations that occur spontaneously and are not present in either parent. This means that even if one parent carries a GDF6 variant, there is no guarantee it will be passed on, and genetic counseling is recommended to understand the specific inheritance risk for a family. What role does the GDF6 protein play in eye health, and can Klippel-Feil syndrome affect vision?::The GDF6 protein is involved in the development of the retina, specifically helping to maintain the survival of photoreceptor cells that detect light and color. While the primary clinical focus of Klippel-Feil syndrome is on skeletal fusion, the involvement of GDF6 in retinal development suggests that some individuals may have subtle or overt eye abnormalities. Patients with this syndrome should undergo regular ophthalmologic evaluations to monitor for potential vision issues related to retinal health.
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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