Greig Cephalopolysyndactyly Syndrome: Causes, Symptoms, And Treatment

Greig cephalopolysyndactyly syndrome, also known as GCPS, is a rare genetic disorder that affects the development of bones in the head, face, hands, and feet. This condition can cause abnormalities such as extra fingers or toes, fusion of the skin between digits, and changes in the shape of the head and face. GCPS is caused by mutations in the GLI3 gene, which plays a crucial role in regulating the growth and development of various body parts during early embryonic development.

These mutations disrupt the normal function of the gene, leading to the characteristic features of Greig cephalopolysyndactyly syndrome. While the exact mechanism behind how these mutations result in the specific signs and symptoms of

What Are the Symptoms of Greig Cephalopolysyndactyly Syndrome?

In addition to these physical characteristics, individuals with this syndrome may also experience intellectual disability, dental problems, and changes in their facial features. While symptoms can vary in severity from person to person, early diagnosis and management by healthcare professionals can help address specific needs and improve quality of life.

Individuals with Greig cephalopolysyndactyly syndrome may present with extra fingers or toes, known as polydactyly.
Some people with this syndrome may have an enlarged head size, termed macrocephaly.
Syndactyly, the fusion of fingers or toes, is a common symptom seen in individuals with Greig cephalopolysyndactyly syndrome.
Facial abnormalities such as a prominent forehead, widely spaced eyes, and a flat nasal bridge can be characteristic features.
Skeletal anomalies like abnormalities in the shape or size of bones in the hands and feet are also observed in this syndrome.

Get a second opinion from trusted experts and makeconfident, informed decisions.

Get Second Opinion

Causes of Greig Cephalopolysyndactyly Syndrome

Greig cephalopolysyndactyly syndrome is primarily caused by mutations in the GLI3 gene, which plays a crucial role in the normal development of limbs, head, and face. When these mutations occur, they disrupt the function of the protein produced by this gene, leading to the characteristic features of the syndrome, such as extra or fused fingers and toes, and craniofacial abnormalities.

Mutations in the GLI3 gene: These mutations are responsible for disrupting normal limb and craniofacial development, causing the physical characteristics seen in Greig cephalopolysyndactyly syndrome.
Deletion or duplication of genetic material: Changes in the genetic material on chromosome 7 can also lead to the development of the syndrome, affecting the regulation of the GLI3 gene.
Inheritance pattern: Greig cephalopolysyndactyly syndrome is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene from either parent is sufficient to cause the condition.
Sporadic mutations: In some cases, the syndrome may arise from new mutations in an affected individual, meaning it is not inherited from either parent.
Advanced paternal age: Older fathers may have a slightly higher likelihood of passing on mutations linked to Greig cephalopolysyndactyly syndrome.

Types Of Greig Cephalopolysyndactyly Syndrome

Greig cephalopolysyndactyly syndrome can manifest in different forms, including Type 1, Type 2, and Type 3, each with varying features and severity.

Type 1: This type is characterized by craniofacial anomalies such as a prominent forehead, widely spaced eyes, and limb abnormalities like polydactyly (extra fingers or toes). It primarily affects the head and limbs.
Type 2: In addition to the craniofacial and limb abnormalities seen in Type 1, Type 2 may also present with intellectual disabilities and skeletal malformations. These individuals may have more significant developmental delays.
Type 3: This type involves similar craniofacial and limb defects as Type 1 but also includes central nervous system anomalies. Individuals may experience neurological issues along with the physical characteristics of the syndrome.

Risk Factors

Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene and is inherited in an autosomal dominant pattern. Although the exact cause of these mutations is often unknown, several risk factors may increase the likelihood of developing the condition.

Family history: Individuals with a family history of Greig cephalopolysyndactyly syndrome or parents who are carriers of the mutated GLI3 gene are at a higher risk of inheriting the condition.
Genetic mutations: Specific mutations in the GLI3 gene are directly linked to the development of the syndrome.
Advanced paternal age: Older fathers are more likely to pass on genetic mutations related to the syndrome.
Environmental factors: Exposure to certain environmental factors during pregnancy could elevate the risk.
Consanguinity: Inbreeding or parents closely related by blood may increase the chances of passing on the condition.

Your health is everything - prioritize your well-being today.

Schedule Your Appointment

Diagnosis of Greig Cephalopolysyndactyly Syndrome

Greig cephalopolysyndactyly syndrome is diagnosed through a combination of clinical evaluation, imaging studies like X-rays, genetic testing, and molecular analysis. During the clinical assessment, the healthcare provider will closely examine the physical characteristics of the patient, such as skull anomalies, extra fingers or toes, and facial features. X-rays help visualize skeletal abnormalities, while genetic testing can identify mutations in the GLI3 gene associated with the syndrome.

Molecular analysis further confirms the diagnosis by detecting specific genetic changes. By integrating these methods, healthcare professionals can accurately diagnose Greig cephalopolysyndactyly syndrome and provide appropriate management and support for patients.

Treatment for Greig Cephalopolysyndactyly Syndrome

Treatment for Greig cephalopolysyndactyly syndrome (GCPS) typically involves a multidisciplinary approach to manage the condition's various symptoms:

Surgical Interventions: These may include surgeries to correct craniofacial abnormalities like craniosynostosis, as well as orthopedic surgeries to address syndactyly (fusion of fingers or toes) and polydactyly (extra fingers or toes).
Physical and Occupational Therapy: These therapies help improve mobility and function in affected individuals, enhancing their quality of life and independence.
Genetic Counseling: Families may benefit from genetic counseling to understand the inheritance pattern and receive emotional support.
Regular Monitoring: Ongoing care and monitoring by a healthcare team are essential to address emerging symptoms and provide comprehensive care.

Find Our Specialists

Book Doctor Appointment

Name*

Mobile Number*

I agree to the Medicover Privacy Policy

International Patient Services

Still have questions? Speak with our experts now!

040-68334455

Frequently Asked Questions

What early signs should I look for with Greig cephalopolysyndactyly syndrome?

Look for extra fingers or toes, a prominent forehead, and widely spaced eyes in Greig cephalopolysyndactyly syndrome.

Are there specific things I should or shouldn't do when dealing with Greig cephalopolysyndactyly syndrome?

Consult a genetic counselor for advice on managing symptoms and appropriate care. Monitor growth and development regularly.

What are the potential complications of Greig cephalopolysyndactyly syndrome?

Complications can include developmental delays, intellectual disability, and skeletal abnormalities such as extra fingers or toes.

What steps should I take for the management of Greig cephalopolysyndactyly syndrome?

Management may include surgery for hand/foot abnormalities, physical therapy, orthopedic devices, and genetic counseling. Regular monitoring is important to manage triglyceride levels, prevent complications such as pancreatitis, and assess for other associated conditions.