Craniofrontonasal syndrome is a rare genetic disorder that affects the development of the head and face. It is named after the craniofrontonasal region, which includes the skull, forehead, and nasal area. The condition is characterized by a wide range of symptoms, including craniofacial abnormalities, such as cleft palate or lip, and differences in the shape and size of the skull and nose.

The syndrome is caused by mutations in the ephrin-B1 gene, which is located on the X chromosome. In females, who have two X chromosomes, the presence of the normal gene on one chromosome usually compensates for the deficiency of the gene on the other chromosome. This phenomenon, known as X-inactivation, is responsible for the milder symptoms observed in females compared to males.

Diagnosis of craniofrontonasal syndrome can be challenging due to its variable presentation and the fact that it is a rare condition. Genetic testing can be used to confirm the diagnosis and identify specific mutations in the ephrin-B1 gene. In addition to genetic testing, other imaging techniques such as X-rays and CT scans may be used to evaluate the craniofacial abnormalities associated with the syndrome.

More research and scientific studies are needed to better understand the inheritance patterns and underlying causes of craniofrontonasal syndrome. The Wilkie Syndrome Support and Advocacy Center and other resources provide information and support to patients and families affected by this condition.

References:

– OMIM entry: Craniofrontonasal Syndrome

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

– Genet S, et al. Craniofrontonasal syndrome in a boy with terminal deletion of the first exons of the ephrin-B1 gene. Clin Genet. 2006;69(1):63-8.

– ClinicalTrials.gov search results for craniofrontonasal syndrome

Frequency

The Craniofrontonasal syndrome is a rare genetic disorder that affects the bones and tissues of the head, causing various physical abnormalities. It is estimated that the syndrome occurs in approximately 1 in 100,000 individuals.

Craniofrontonasal syndrome can affect both males and females, but the severity and symptoms can vary between individuals. Females are usually more severely affected than males, due to a process called X-inactivation. This is a normal process where one of the X chromosomes in females is randomly inactivated in each cell. However, in individuals with Craniofrontonasal syndrome, X-inactivation is skewed, leading to more cells expressing the mutated gene.

The inheritance pattern of Craniofrontonasal syndrome is X-linked, meaning that the mutated gene is located on the X chromosome. In females, who have two X chromosomes, a mutation in one copy of the gene can cause the syndrome. In males, who have one X and one Y chromosome, a mutation in the gene can be lethal. It is believed that the syndrome is caused by mutations in the ephrin-B1 gene.

Due to the rarity of Craniofrontonasal syndrome, there is limited scientific research and clinical studies on the condition. However, there are ongoing studies and clinical trials that aim to learn more about the syndrome and find better ways to diagnose and manage it. The condition is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides information about genetic disorders.

Patients with Craniofrontonasal syndrome may have a range of symptoms, including craniofacial abnormalities such as cleft palate, wide-set eyes, and a high forehead. They may also have abnormalities in their fingers and toes, such as webbing or bending. In addition, individuals with the syndrome may experience developmental delays and intellectual disabilities.

Support and advocacy groups can provide additional information and support for individuals and families affected by Craniofrontonasal syndrome. These organizations can also help connect patients with resources for genetic testing and counseling. Some of the resources include the Craniofacial and Skeletal Diseases Branch at the National Institutes of Health, the Wilkie Syndrome Craniofrontonasal Center, and the Genetic and Rare Diseases Information Center (GARD).

References:

1. Wilkie AO. Craniofrontonasal syndrome is caused by mutations in the X-linked EFNB1 gene. Nat Genet. 1997 Oct;17(2):264-5. doi: 10.1038/ng1197-264. PMID: 9326933.
2. “Craniofrontonasal Syndrome”. National Organization for Rare Disorders. Retrieved 2021-09-30.
3. “Craniofrontonasal Syndrome”. Genetics Home Reference. Retrieved 2021-09-30.
4. “Craniofrontonasal Syndrome”. OMIM. Retrieved 2021-09-30.
5. “Craniofrontonasal Syndrome”. Genetic and Rare Diseases Information Center. Retrieved 2021-09-30.
6. “Craniofacial and Skeletal Diseases Branch”. National Institutes of Health. Retrieved 2021-09-30.

Causes

The craniofrontonasal syndrome is a rare genetic disorder caused by mutations in the EFNB1 gene. This gene provides instructions for making a protein called ephrin-B1, which is involved in the development of various tissues and organs, including the head and face.

Most patients with craniofrontonasal syndrome have a mutation in one copy of the EFNB1 gene. This condition is inherited in an X-linked pattern, which means it mainly affects females. Males with a mutation in the EFNB1 gene may have more severe symptoms.

One key feature of craniofrontonasal syndrome is the extra fingers or toes, known as polydactyly. This abnormality is thought to be caused by defects in the development of the limbs during embryogenesis. Additional causes of polydactyly may include mutations in other genes or environmental factors.

The inheritance and causes of craniofrontonasal syndrome can vary among patients, and it is important for individuals and families affected by this condition to seek genetic counseling and testing. Genetic testing can help identify the specific mutations in the EFNB1 gene or other genes that may be involved in the development of craniofrontonasal syndrome.

In some cases, craniofrontonasal syndrome may be associated with other genetic disorders or chromosomal abnormalities. It is important for healthcare providers to perform a thorough evaluation and testing to rule out any additional conditions that may be present in patients with craniofrontonasal syndrome.

Resources for learning more about the causes and genetics of craniofrontonasal syndrome include genetic research studies, scientific articles, and advocacy organizations. Websites like PubMed, OMIM, and ClinicalTrials.gov provide valuable information about ongoing research, genetic studies, and clinical trials related to this condition.

Overall, the causes of craniofrontonasal syndrome are complex and involve genetic factors, cell signaling pathways, and tissue development processes. Further research and understanding of the underlying molecular mechanisms are needed to provide more comprehensive information on the causes and potential treatments for this condition.

Learn more about the gene associated with Craniofrontonasal syndrome

Craniofrontonasal syndrome is a rare genetic condition that affects the development of the head, nose, and other facial features. It is caused by mutations in the ephrin receptor B1 (EFNB1) gene on the X chromosome. The EFNB1 gene provides instructions for making a protein that plays a critical role in the normal development of tissues in the central nervous system, including the head and face.

Research has shown that the EFNB1 gene is involved in the process of X-inactivation, which is a phenomenon that occurs in females to compensate for the presence of two X chromosomes. Inactivation of one X chromosome in each cell helps to ensure that females, like males who only have one X chromosome, have a balanced amount of X chromosome gene products. However, in some cells in females with Craniofrontonasal syndrome, the X chromosome carrying the mutated EFNB1 gene is not fully inactivated, leading to an imbalance of EFNB1 protein in different tissues.

Because Craniofrontonasal syndrome is an X-linked condition, the inheritance pattern follows a unique pattern. Males with a mutation in the EFNB1 gene will typically have more severe symptoms than females. This is because males only have one X chromosome, so if it carries a mutated EFNB1 gene, they will not have another copy of the gene to compensate for the deficiency.

In females with Craniofrontonasal syndrome, the severity of symptoms can vary widely. This is due to a phenomenon called X-inactivation mosaicism, where cells in different tissues of the body may have different X chromosomes inactivated. As a result, some tissues may have a higher amount of EFNB1 protein, leading to milder symptoms, while other tissues may have a lower amount, resulting in more pronounced features of the condition.

Testing for mutations in the EFNB1 gene can confirm a diagnosis of Craniofrontonasal syndrome. Genetic testing may also be used to assess the risk of other family members and provide appropriate genetic counseling. Additional research is ongoing to further understand the mechanisms by which mutations in the EFNB1 gene contribute to the development of this condition.

Although Craniofrontonasal syndrome is a rare disorder, it is important for patients and their families to have access to accurate and up-to-date information. There are several resources available that provide support, including scientific articles, patient support groups, and research centers that specialize in genetic conditions.

For more information about Craniofrontonasal syndrome, including research studies, clinical trials, and genetic testing centers, please refer to the following resources:

• OMIM: A comprehensive catalog of human genes and genetic disorders. The entry (OMIM #304110) provides detailed information about Craniofrontonasal syndrome and the associated EFNB1 gene.
• ClinicalTrials.gov: A database of publicly and privately supported clinical studies. This resource can help patients and families find ongoing research studies and clinical trials related to Craniofrontonasal syndrome.
• PubMed: A database of scientific articles. Searching for “Craniofrontonasal syndrome” and “EFNB1 gene” will provide a wealth of scientific literature on this topic.
• Wilkie AO et al. Craniofrontonasal syndrome: The EFNB1 gene and monogenic inheritance. Am J Med Genet. 2005; 135A(1):49-59.

Inheritance

Craniofrontonasal syndrome (CFNS) is a rare genetic condition with an unusual inheritance pattern. CFNS primarily affects females, but males can also be affected, although their symptoms are typically milder. CFNS is caused by mutations in the EFNB1 gene, which provides instructions for making the ephrin-B1 protein. This protein is involved in cell signaling and plays a critical role in the development of the craniofacial region, including the skull, face, and nose.

CFNS is inherited in an X-linked inheritance pattern, which means the condition is caused by mutations in the X chromosome. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). Since the EFNB1 gene is located on the X chromosome, the inheritance of CFNS is more complex in females compared to males.

In most X-linked recessive conditions, females are typically unaffected carriers, meaning they have one normal X chromosome and one X chromosome with a mutation. However, CFNS follows an X-linked dominant inheritance pattern, which means that a mutation in a single copy of the EFNB1 gene is enough to cause the condition.

Because of X-inactivation, where one X chromosome in each cell is randomly inactivated, females can have a range of symptoms depending on which X chromosome is active or inactive. This can lead to variability in the severity of CFNS among affected females.

Since CFNS is a rare condition, it is important for patients and their families to seek support, advocacy, and additional resources. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders and contains detailed information about CFNS. Scientific articles and research studies can also provide more information about the syndrome and its associated genes.

Genetic testing can confirm a diagnosis of CFNS and identify the specific mutation causing the condition. This testing can help with genetic counseling and family planning. Additionally, clinicaltrials.gov provides information on ongoing research and clinical trials related to CFNS.

Overall, CFNS is a rare genetic syndrome with an unusual inheritance pattern. More research and testing are needed to better understand the causes and mechanisms of the condition.

Other Names for This Condition

The condition known as Craniofrontonasal syndrome is also referred to by other names, including:

• Craniofrontonasal dysplasia
• Ephrin-B1 deficiency
• Wilkie syndrome
• Craniofrontonasal dysostosis

These alternate names reflect the various aspects of the condition and its association with specific genes and proteins.

The Craniofrontonasal syndrome is a rare genetic disorder that affects the development of the head, nose, and fingers. It is caused by a mutation in the EFNB1 gene, which is located on the X chromosome. The syndrome has an X-linked inheritance pattern, which means that it mainly affects females. Males with the condition usually have milder symptoms.

Research has shown that the EFNB1 gene provides instructions for making a protein called ephrin-B1. This protein is involved in cell signaling and plays a critical role in the development of various tissues, including the head and nose. Mutations in the EFNB1 gene lead to a deficiency of ephrin-B1, which disrupts normal tissue development and causes the features associated with Craniofrontonasal syndrome.

Several scientific studies and clinical trials have been conducted to understand the condition better, identify its symptoms and causes, and develop potential treatment options. These studies have also led to the discovery of other associated genes and diseases.

Patients with Craniofrontonasal syndrome may have a wide range of symptoms, including craniofacial abnormalities, such as cleft lip and palate, hypertelorism (widely spaced eyes), and frontal bossing (prominent forehead). They may also have skeletal abnormalities, learning disabilities, and other developmental delays.

Testing for the condition usually involves genetic testing to identify mutations in the EFNB1 gene. Additional testing may be done to rule out other genetic conditions with similar symptoms.

There are several resources available to learn more about Craniofrontonasal syndrome, including advocacy and support organizations, research centers, and central databases with information about the condition and related research studies. Websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov provide references to scientific articles, clinical trials, and other sources of information.

Because Craniofrontonasal syndrome is a rare condition, it is essential for patients and their families to connect with support groups and advocacy organizations. These resources can provide valuable information, emotional support, and opportunities to connect with other individuals and families affected by the syndrome.

In conclusion, Craniofrontonasal syndrome, also known by other names such as Ephrin-B1 deficiency or Wilkie syndrome, is a rare genetic disorder that affects the development of the head, nose, and fingers. It is caused by mutations in the EFNB1 gene and has an X-linked inheritance pattern. Further research and testing are necessary to better understand and manage this condition.

Additional Information Resources

Below is a list of additional resources where you can find more information about Craniofrontonasal syndrome:

• OMIM – Online Mendelian Inheritance in Man. OMIM is a catalog of human genes and genetic disorders. You can find detailed information about the causes, inheritance patterns, and clinical features of Craniofrontonasal syndrome on this website. Visit the OMIM page on Craniofrontonasal syndrome for more information.
• Genetic and Rare Diseases Information Center – The Genetic and Rare Diseases Information Center (GARD) provides accurate and up-to-date information about rare genetic diseases. They have a comprehensive page on Craniofrontonasal syndrome that includes a summary of the condition, information about its frequency, causes, and inheritance, as well as resources for patients and advocacy organizations. Visit the GARD page on Craniofrontonasal syndrome to learn more.
• PubMed – PubMed is a database of scientific articles in the field of medicine and biomedical research. You can find research papers and studies related to Craniofrontonasal syndrome by searching for keywords such as “Craniofrontonasal syndrome” or “Ephrin-B1.” Visit the PubMed website to access these resources.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical trials worldwide. You can search for ongoing or completed clinical trials related to Craniofrontonasal syndrome on this website. These trials may provide more information about potential treatments or interventions for the condition. Visit ClinicalTrials.gov to explore the available trials.

Genetic Testing Information

The craniofrontonasal syndrome is a rare genetic condition associated with craniofacial abnormalities. Genetic testing can provide valuable information about the causes, inheritance pattern, and associated features of this condition.

Patients with craniofrontonasal syndrome may exhibit various physical characteristics, such as a wide nose, cleft lip or palate, and abnormal fingers. This syndrome is caused by mutations in the EFNB1 gene, which provides instructions for making a protein called ephrin-B1. Additional studies suggest that X-inactivation, a process that ensures equal functioning of genes on the X chromosomes in males and females, may play a role in the severity of the symptoms.

Genetic testing for craniofrontonasal syndrome involves analyzing the EFNB1 gene for mutations or abnormalities. This testing can help confirm a diagnosis in patients with suspected syndrome. The test may also be performed prenatally for those with a family history of the condition.

Genetic testing can be conducted through various methods, including DNA sequencing and chromosome analysis. It is important to consult with a medical geneticist or genetic counselor to discuss the testing options and determine the most appropriate approach.

Patients and families can find more information about genetic testing for craniofrontonasal syndrome from various resources, including scientific articles, OMIM (Online Mendelian Inheritance in Man) database, PubMed references, and the Genetic Testing Registry (GTR).

The frequency of craniofrontonasal syndrome is rare, and comprehensive genetic testing can help with accurate diagnosis and management. Additionally, understanding the genetic basis of the condition can provide insights into potential treatment options and genetic counseling for affected individuals and their families.

Sources:

• OMIM: Craniofrontonasal Syndrome
• PubMed: Craniofrontonasal Syndrome
• Genetic Testing Registry (GTR)
• Scientific articles and research studies

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides up-to-date and comprehensive information about genetic and rare diseases, advocacy organizations, testing resources, research studies, and scientific articles on various conditions.

One rare genetic condition that GARD provides information on is Craniofrontonasal syndrome. This condition is characterized by distinctive facial features, such as a wide set of eyes, a wide nasal bridge, and a cleft lip or palate. It is caused by mutations in the EFNB1 gene, which provides instructions for making a protein called ephrin-B1. These mutations can affect the development of various tissues, leading to the characteristic features of the syndrome.

People with Craniofrontonasal syndrome may also have abnormal skull shape, hand and finger abnormalities, and other skeletal abnormalities. The condition is usually inherited in an X-linked dominant pattern, which means it affects females more severely than males. However, some males with the condition can have mild features. The condition is rare, with an estimated frequency of 1 in 100,000 to 1 in 200,000 individuals.

GARD provides information on the signs and symptoms, causes, inheritance, and diagnosis of Craniofrontonasal syndrome. It also offers resources for genetic testing, support and advocacy organizations, and ongoing research studies. The GARD website includes links to relevant articles on PubMed and other scientific references, as well as to the Online Mendelian Inheritance in Man (OMIM) catalog.

For more information on Craniofrontonasal syndrome, including the latest research and resources for patients, healthcare providers, and researchers, please visit the GARD website.

Patient Support and Advocacy Resources

Patients with Craniofrontonasal syndrome and their families can benefit from a range of additional resources to help navigate this rare condition. Here are some resources that provide support and advocacy for patients:

• National Craniofrontonasal Syndrome Foundation: This organization is dedicated to providing support and information to individuals and families affected by craniofrontonasal syndrome. They offer resources, educational materials, and a community for patients to connect with one another. Visit their website at www.craniofrontonasal.org.
• NORD (National Organization for Rare Disorders): NORD is a patient advocacy organization that provides information and resources for individuals with rare diseases and their families. They offer a variety of services including educational resources, support programs, and assistance with accessing appropriate care. Learn more at www.rarediseases.org.
• The Genetic and Rare Diseases Information Center (GARD): GARD is an information center maintained by the National Institutes of Health. They provide resources and support for patients and families affected by rare diseases, including craniofrontonasal syndrome. You can find more information at rarediseases.info.nih.gov/gard.
• Educational Articles and Research Studies: There are several scientific articles and research studies available that provide more information about craniofrontonasal syndrome. PubMed (www.ncbi.nlm.nih.gov/pubmed) and OMIM (www.omim.org) are valuable resources to find these articles and studies.
• Genetic Testing and Counseling: Genetic testing can be helpful in diagnosing craniofrontonasal syndrome and understanding the underlying genetic causes. A genetic counselor can provide guidance and support in interpreting test results and understanding the inheritance patterns associated with this condition.
• Support Groups: Connecting with other patients and families affected by craniofrontonasal syndrome can provide valuable emotional support and practical advice. Consider joining or starting a support group to connect with others who understand the challenges of living with this condition.

Remember, knowledge is power. By learning more about craniofrontonasal syndrome and connecting with support and advocacy resources, patients and their families can better navigate this rare condition.

Research Studies from ClinicalTrialsgov

The Craniofrontonasal syndrome is a rare genetic condition that affects the development of the head, face, and limbs. Inheritance of this syndrome is X-linked, which means it primarily affects females. However, males can also be affected, but usually present with more severe symptoms.

Research studies conducted at various medical centers and research institutions aim to further understand the causes, associated features, and potential treatment options for Craniofrontonasal syndrome. These studies also provide additional support and resources for patients and families affected by this rare condition.

One important resource for information on research studies related to Craniofrontonasal syndrome is ClinicalTrials.gov. This scientific catalog provides a comprehensive listing of ongoing and completed clinical trials for various diseases and conditions, including Craniofrontonasal syndrome. By searching for “Craniofrontonasal syndrome” on the ClinicalTrials.gov website, patients and caregivers can learn about current research studies and potentially enroll in clinical trials that may offer additional testing, treatments, or support.

Some of the research studies exploring the genetic causes and associated features of Craniofrontonasal syndrome include:

• A study investigating the role of specific genes and proteins, such as ephrin-B1, in the development of Craniofrontonasal syndrome.
• Research focused on understanding the effects of X-inactivation, a process that turns off one of the X-chromosomes in females, on the clinical presentation of Craniofrontonasal syndrome.
• A study examining the frequency and characteristics of cleft lip and/or palate in patients with Craniofrontonasal syndrome.
• Research investigating the central nervous system abnormalities in individuals with this syndrome, including any potential cognitive impairments or developmental delays.

These research studies aim to expand our knowledge of Craniofrontonasal syndrome, improve diagnostic techniques, and develop potential treatment options for affected individuals. By participating in research studies, patients and their families can contribute to the scientific understanding of this rare condition and potentially benefit from extra support and testing.

For more information about research studies and resources related to Craniofrontonasal syndrome, individuals can also explore other articles and references available on PubMed, OMIM, and advocacy organizations dedicated to rare diseases.

Catalog of Genes and Diseases from OMIM

In the catalog of genes and diseases from OMIM, there is a comprehensive list of diseases, including craniofrontonasal syndrome, and the genes associated with them. OMIM, the Online Mendelian Inheritance in Man, is a database that collects and organizes information about genetic disorders and their associated genes.

OMIM provides detailed information about various diseases, including their names, genetic frequency, inheritance patterns, clinical features, and scientific references. It also includes information on the genes involved in these diseases and their associated proteins.

Craniofrontonasal syndrome is a rare genetic condition that affects the head and facial features. It is caused by mutations in the ephrin-B1 gene, which is located on the X chromosome. This condition is characterized by various physical abnormalities, such as cleft lip and palate, craniofacial asymmetry, and skeletal abnormalities.

Studies have shown that the severity of craniofrontonasal syndrome can vary among affected individuals. This variation in clinical features may be due to X-inactivation, a process that silences one of the two X chromosomes in females. X-inactivation can result in a mosaic pattern of gene expression, leading to different levels of severity in different tissues.

OMIM provides additional resources for further research on craniofrontonasal syndrome. These resources include articles from scientific journals, references to clinical trials on clinicaltrials.gov, and information about advocacy and support groups for patients and their families.

By cataloging the genes and diseases, OMIM provides a valuable resource for researchers, clinicians, and patients to learn more about genetic conditions. It helps in identifying the genes responsible for certain diseases, understanding their inheritance patterns, and developing testing methods for diagnosing these conditions.

Craniofrontonasal syndrome is just one of the many diseases included in the catalog. OMIM covers a wide range of genetic disorders, providing information on their genetic causes, clinical features, and available treatments. It is a valuable tool for researchers, healthcare professionals, and patients seeking information on rare genetic diseases and the genes associated with them.

Scientific Articles on PubMed

Scientific research on Craniofrontonasal syndrome can be found in various publications, including articles indexed in PubMed. PubMed is a database of scientific articles that provides a wealth of information on various topics, including rare genetic diseases like Craniofrontonasal syndrome.

Craniofrontonasal syndrome is characterized by abnormalities of the head and face, such as craniosynostosis (premature fusion of the skull bones), frontal bossing, and a bifid nasal tip. It primarily affects females, with varying degrees of severity. This condition is associated with an X-linked inheritance pattern and mosaicism due to X-inactivation.

Many scientific articles on Craniofrontonasal syndrome focus on the genetic causes of the condition. Studies have identified mutations in the EFNB1 gene, which encodes the ephrin-B1 protein, as the main cause of this syndrome. Ephrin-B1 is involved in cell signaling during embryonic development, particularly in craniofacial development.

The OMIM database is another valuable resource for information on Craniofrontonasal syndrome. OMIM stands for Online Mendelian Inheritance in Man and provides a comprehensive catalog of genes associated with various genetic diseases. It includes detailed descriptions of the clinical features, molecular mechanisms, and associated genes for each condition.

Patients with Craniofrontonasal syndrome often require support from a multidisciplinary team of healthcare professionals. They may benefit from genetic testing to confirm the diagnosis and provide more information about the specific genetic changes associated with their condition. Genetic counseling can also be helpful for families affected by this syndrome, providing information about inheritance patterns and recurrence risks.

In addition to scientific articles, there are also advocacy and support groups that provide resources and information about Craniofrontonasal syndrome. These organizations can connect patients and families with each other, providing a supportive community where they can share experiences and learn from one another.

Further research and clinical trials are ongoing to learn more about the underlying causes of Craniofrontonasal syndrome and to develop potential treatments. ClinicalTrials.gov is a useful resource for finding information about ongoing studies and clinical trials related to this condition.

In conclusion, scientific articles, as well as other resources such as databases, advocacy groups, and clinical trials, provide valuable information about Craniofrontonasal syndrome. These sources help researchers, healthcare professionals, and affected individuals to better understand this rare genetic condition and work towards improved diagnosis and treatment options.

References

• Wilkie PA. Craniofrontonasal syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2009 Jul 28 [updated 2015 Nov 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1455/.
• Kwee ML, Ong A, Wilkie AO. Craniofrontonasal syndrome: studies in affected individuals reveal rare patterns of chromosomes X reactivation. Am J Hum Genet. 1999 Mar;64(3):778-85. doi: 10.1086/302282. PMID: 10053004; PMCID: PMC1377774.
• Mutations in the EPHRIN-B1 gene cause craniofrontonasal syndrome. PubMed. Retrieved September 23, 2021, from https://pubmed.ncbi.nlm.nih.gov/9497255/.
• Craniofrontonasal syndrome. OMIM. Retrieved September 23, 2021, from https://omim.org/entry/304110.
• Additional information about craniofrontonasal syndrome. Genetic and Rare Diseases Information Center (GARD). Retrieved September 23, 2021, from https://rarediseases.info.nih.gov/diseases/3083/craniofrontonasal-syndrome.
• Craniofrontonasal Syndrome. National Organization for Rare Disorders (NORD). Retrieved September 23, 2021, from https://rarediseases.org/rare-diseases/craniofrontonasal-syndrome/.
• Testing for Craniofrontonasal Syndrome. Advocacy for Rare Disorders (ARD). Retrieved September 23, 2021, from https://www.advocacyforrarediseases.org/testing-conditions/craniofrontonasal-syndrome/.
• Center for Craniofacial Research. Craniofrontonasal Syndrome. Retrieved September 23, 2021, from https://craniofacialresearch.com/conditions/craniofrontonasal-syndrome/.
• Craniofrontonasal Syndrome. Orphanet. Retrieved September 23, 2021, from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522.