Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic condition that affects the development of various parts of the body. It is associated with mutations in the TP63 gene, which plays a crucial role in the formation of skin, hair, teeth, and other ectodermal structures. AEC syndrome is part of a spectrum of rare diseases known as ectodermal dysplasias, which have overlapping features and genetic causes.
The main features of AEC syndrome include ankyloblepharon (fusion of the eyelids), ectodermal defects (such as sparse hair, absence or malformation of teeth, and reduced ability to sweat), and cleft lip/palate. In addition to these characteristic features, individuals with AEC syndrome may also have abnormalities of the hands and feet, glandular dysfunction, and hearing loss. The severity of symptoms can vary widely from person to person.
Diagnosis of AEC syndrome is typically based on clinical features and confirmed through genetic testing. Inheritance of the condition can be autosomal dominant, meaning that a person only needs to inherit one mutated TP63 gene from a parent to develop the syndrome. However, AEC syndrome can also occur as a spontaneous mutation in individuals without a family history of the condition.
There are currently no specific treatments for AEC syndrome, but management focuses on addressing individual symptoms. For example, surgeries may be required to repair cleft lip/palate or correct hand and foot abnormalities. Supportive care such as hearing aids and dental prosthetics can also improve quality of life for affected individuals.
For more information on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate syndrome, additional resources and patient advocacy organizations can provide support and information. PubMed, OMIM, and other scientific catalogs are available references for scientific articles and genetic testing. Learning more about this genetic condition can aid in understanding its causes and inheritance patterns, and help individuals and families affected by AEC syndrome access the necessary support and resources.
Frequency
The frequency of Ankyloblepharon-ectodermal defects-cleft lippalate syndrome (AEC) is rare. According to scientific literature, the condition has been reported in only a few patients, and most of the information about AEC comes from case reports and small case series.
The exact frequency of AEC is not known, but it is considered to be a rare genetic disorder. It is caused by mutations in the TP63 gene, and inheritance is autosomal dominant.
Data from the Online Mendelian Inheritance in Man (OMIM) database shows that AEC is on the spectrum of diseases caused by mutations in TP63. Other syndromes on this spectrum include Rapp-Hodgkin syndrome and Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. These syndromes share overlapping symptoms, such as cleft lip and palate, and defects in the hands and feet.
Since AEC is a rare condition, there are limited resources available for patients and families to learn more about the disease. However, genetic testing can help confirm the diagnosis and provide additional information about the specific mutations in the TP63 gene.
Support and advocacy organizations may also provide resources and information for patients and families affected by AEC. These organizations may offer support groups, educational materials, and connections to healthcare providers and researchers specializing in the condition.
References:
- GeneReviews. TP63-Related Disorders. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1513/
- Online Mendelian Inheritance in Man (OMIM). Entry No. 106260: TP63. Available from: https://www.omim.org/entry/106260
- DermNet NZ. Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. Available from: https://dermnetnz.org/topics/ankyloblepharon-ectodermal-defects-cleft-lippalate-syndrome/
- Orphanet. Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10327
Causes
The Ankyloblepharon-ectodermal defects-cleft lippalate syndrome is a rare genetic disorder. It is caused by mutations in the TP63 gene, which is involved in the development of tissues and organs during embryonic development. This syndrome is also known as the Rapp-Hodgkin syndrome, which is named after the scientists who first described it.
The inheritance of this syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the mutated gene to their children. However, some cases may result from de novo mutations, meaning that the mutation occurs for the first time in the affected individual and is not inherited from either parent.
Patients with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome may have a variety of symptoms, including cleft lip and palate, ankyloblepharon (fusion of the eyelids), ectodermal defects (such as thin hair, missing or misshapen teeth, and abnormal sweat glands), and other developmental abnormalities. Some individuals may also have abnormalities of the hands and feet, such as syndactyly (webbed fingers or toes) or brachydactyly (short fingers or toes).
There are rare cases where mutations in other genes may also cause similar symptoms, resulting in a similar phenotype. Genetic testing can be done to confirm the presence of TP63 mutations and to rule out mutations in other genes.
More scientific articles and resources about the Ankyloblepharon-ectodermal defects-cleft lippalate syndrome can be found in online databases such as OMIM or PubMed. These resources provide additional information about the genetics, causes, and frequency of this condition.
The Ankyloblepharon-ectodermal defects-cleft lippalate syndrome may also require frequent medical monitoring and care due to the associated complications. Support and advocacy groups are available to help patients and their families learn more about the syndrome, find additional resources, and connect with others who are affected by this condition.
References:
- Dermatol Online J. 2017 Dec 15;24(12). pii: 13030/qt4n9557kn.
- GeneReviews® [Internet] – NCBI Bookshelf
- The Jackson Laboratory. Mouse Strain Resources
Learn more about the gene associated with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome
Ankyloblepharon-ectodermal defects-cleft lippalate (AEC) syndrome is a rare genetic condition that affects multiple parts of the body, including the skin, hair, teeth, and limbs. It is characterized by the presence of ankyloblepharon (fusion of the eyelids), ectodermal defects (abnormalities of the skin and its appendages), and cleft lippalate (cleft lip and/or palate).
Research has identified the gene associated with AEC syndrome, known as the TP63 gene. Mutations in this gene are responsible for causing the syndrome and have been found to affect various aspects of development and function in affected individuals.
The TP63 gene belongs to a family of genes called the p63 transcription factor genes. These genes play a vital role in the development and maintenance of tissues, particularly those derived from the ectoderm. The TP63 gene is specifically involved in the regulation of genes that control the development of the skin, hair, nails, teeth, and other structures derived from the ectoderm.
Understanding the underlying genetic basis of AEC syndrome and the role of the TP63 gene has provided valuable insights into the disease and its manifestations. It has also paved the way for improved diagnostic testing and genetic counseling for affected individuals and their families.
For more information on the TP63 gene, its role in AEC syndrome, and related research, the following resources may be useful:
- The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the TP63 gene and its associated disorders like AEC syndrome. Visit https://www.omim.org/entry/603273 for more details.
- PubMed is a scientific research database that contains a wealth of articles and studies on AEC syndrome and the TP63 gene. Search for “Ankyloblepharon-ectodermal defects-cleft lippalate syndrome TP63 gene” for more information.
- The National Center for Biotechnology Information (NCBI) Gene database offers detailed information on the TP63 gene, including its structure, function, and associated diseases. Visit https://www.ncbi.nlm.nih.gov/gene/8626 for more information.
These resources provide valuable insights into the genetic basis of AEC syndrome and offer support for healthcare providers, researchers, and patients seeking more information about this rare condition. Genetic testing and counseling can help affected individuals and their families better understand the inheritance patterns and risk factors associated with the TP63 gene mutations.
In addition, various advocacy and support organizations exist for individuals and families affected by AEC syndrome. These organizations can provide resources, information, and a supportive community for those living with this rare condition.
Inheritance
The inheritance pattern of Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is autosomal dominant, which means that a person with one copy of the mutated gene is affected by the disease. This syndrome is caused by mutations in the TP63 gene. TP63 is also associated with other syndromes, such as EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate) and Rapp-Hodgkin syndrome.
There are more than 80 different mutations in the TP63 gene that can cause AEC syndrome. These mutations lead to abnormalities in the development of various tissues and organs, including the skin, teeth, hair, cleft lip/palate, and sweat glands. Individuals with AEC syndrome may also experience erosions on the palms of their hands and the soles of their feet.
AEC syndrome is a rare genetic condition, and the frequency of occurrence is currently unknown. However, there are advocacy and support resources available for patients and families affected by AEC syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides more information about the genes associated with AEC syndrome and other related diseases.
In addition to clinical examination and patient history, genetic testing can confirm a diagnosis of AEC syndrome. Genetic testing can identify specific mutations in the TP63 gene and help determine the inheritance pattern within a family. Genetic counselors can provide further guidance and information about the condition.
More scientific information about AEC syndrome can be found in peer-reviewed articles and research publications. PubMed is a useful resource for accessing scientific articles related to AEC syndrome and its associated genes. The National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on the condition and associated genes.
References:
- Kobielak K, Kobielak A, Lombardi H, Li L, Guo L, Zhu T, et al. Towards a functional understanding of the therapeutic potential of stem cells for skin repair. Aging (Albany NY). 2009;1(6):614-20. doi: 10.18632/aging.100063.
- Van Steensel MA, Steijlen PM. Molecular genetics of the genodermatoses with structural abnormalities of the skin. Br J Dermatol. 2005;152(3):429-48. doi: 10.1111/j.1365-2133.2005.06457.x.
- van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, et al. p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001;69(3):481-92. doi: 10.1086/321293.
Other Names for This Condition
- Ankyloblepharon-ectodermal defects-cleft lippalate syndrome
- Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, Rapp-Hodgkin type
- ARECC
- Nonsyndromic cleft lip with or without cleft palate
- Hay-Wells syndrome
- HED-EOD
- Hypothyroidism with cleft palate
Additional Information Resources
There are several resources available for individuals and families seeking more information about Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and related conditions. These resources provide valuable support, scientific articles, and genetic testing information.
- Online Resources:
- Dermatol Rapp-Hodgkin-Like Syndrome Center: This website is dedicated to providing information about Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and related conditions. It offers resources for patients and families, including support groups, articles, and scientific publications.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, including their names, mutations, and inheritance patterns.
- PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information about Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and other related syndromes.
- Genetic Testing:
- Advocacy and Support Groups:
- References:
- Rapp-Hodgkin Syndrome. Available from: [insert reference]
- Genetic Erosion Due to Mutations in Genes Associated with Ankyloblepharon-ectodermal Defects-cleft Lippalate Syndrome. Available from: [insert reference]
- Ankyloblepharon-ectodermal Defects-cleft Lippalate Syndrome: A Spectrum of Genetic Disorders. Available from: [insert reference]
Genetic testing is available for individuals with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and their families. This testing can help identify specific genetic mutations associated with the condition and provide valuable information about the disease’s causes and inheritance patterns.
There are several advocacy and support groups dedicated to Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and related conditions. These organizations provide support, resources, and information to individuals and families affected by the syndrome.
For more detailed information about Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, including clinical manifestations and treatment approaches, refer to the following references:
Genetic Testing Information
If you or someone you know has been diagnosed with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, genetic testing can provide valuable information about the underlying cause of this rare condition. Genetic testing involves analyzing a person’s DNA to identify any changes or mutations in specific genes that may be associated with the syndrome.
Several genes have been identified as being involved in the development of Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. These genes include TP63, IRF6, and GRHL3. Mutations in these genes can disrupt normal development and lead to the characteristic features of the syndrome.
It is also important to note that Ankyloblepharon-ectodermal defects-cleft lippalate syndrome is typically inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing on the condition to each of their children.
If you are interested in learning more about genetic testing for Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, there are several resources available to help. The National Organization for Rare Disorders (NORD) provides information and advocacy for individuals with rare diseases and can offer guidance on genetic testing options.
Additional information on genetic testing for this syndrome can also be found in scientific articles and dermatology textbooks. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders and may contain more detailed information on the specific genes associated with this condition.
It is important to note that genetic testing is not available for all rare conditions, and in some cases, a specific genetic cause may not yet be identified. However, advances in genetic research and technology are constantly expanding our understanding of rare diseases, and new testing options may become available in the future.
Genetic testing can provide important information for individuals and families affected by Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. It can help to confirm a diagnosis, provide information about disease progression and management, and offer insight into the inheritance pattern of the condition.
If you are considering genetic testing for yourself or a family member, it is recommended to consult with a healthcare professional or genetic counselor. They can help you understand the benefits and limitations of testing and provide support throughout the process.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for information on the Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, a genetic disease with a frequency that is considered rare. GARD provides extensive information on the genetic causes, inheritance patterns, and associated symptoms of this condition.
Patients with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome often experience a loss or erosion of the skin covering the hands and feet, as well as defects in the structure of the eyelids and lips. This syndrome is also associated with abnormalities in the structure and function of sweat glands.
Genetic testing is available for this condition, and mutations in certain genes have been identified as causal factors. The Rapp-Hodgkin syndrome is a part of the wider spectrum of this syndrome, and more information about the genes involved can be found on the GARD website. Additionally, the GARD website provides a catalog of other syndromes and diseases that may be associated with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, as well as resources for support and advocacy.
The GARD website also provides scientific references from PubMed and OMIM, which are valuable sources for additional articles on this genetic disease. By accessing GARD, patients, healthcare professionals, and researchers can learn more about the causes, inheritance patterns, and available testing for Ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
Overall, GARD is a comprehensive resource that provides information and support for individuals affected by genetic and rare diseases, including Ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
Patient Support and Advocacy Resources
For patients and families affected by Ankyloblepharon-ectodermal defects-cleft lippalate (AEC) syndrome and other related genetic conditions, it is important to seek support and advocacy resources. These resources can provide valuable information, connect individuals to others facing similar challenges, and offer assistance in navigating the complexities of these rare diseases.
- OMIM (Online Mendelian Inheritance in Man) – OMIM is an online catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of AEC syndrome and related syndromes, including associated genes, inheritance patterns, clinical features, and more. OMIM can be a valuable resource for learning about the condition and its causes. Available at: https://www.omim.org/
- The National Ectodermal Dysplasia Society – This organization offers support and resources for individuals and families affected by ectodermal dysplasias, including AEC syndrome. Their website provides information on the condition, available treatments, and support services. They also host events and conferences to connect patients and promote advocacy. Available at: https://www.nfed.org/
- Rapp-Hodgkin Syndrome Foundation – The Rapp-Hodgkin Syndrome Foundation is dedicated to supporting patients and families affected by Rapp-Hodgkin syndrome, a rare condition characterized by the combination of ectodermal dysplasia, cleft lip/palate, and other features. They provide resources, educational materials, and advocate for research and awareness. Available at: https://www.rapp-hodgkin.org/
Additionally, scientific literature and medical databases like PubMed can provide further information on the genetic causes, clinical presentation, and management of AEC syndrome and related syndromes. Searching for articles and publications using relevant keywords like “ankyloblepharon-ectodermal defects-cleft lippalate syndrome” or “AEC syndrome” can yield valuable insights.
Genetic testing can also play a significant role in the diagnosis and management of AEC syndrome. consulting with a geneticist or genetic counselor can provide more information on testing options, the genes involved, and the inheritance patterns of the condition.
Overall, it is crucial for patients and families affected by AEC syndrome and related syndromes to access patient support and advocacy resources. These resources can offer not only information and assistance but also a sense of community and understanding.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers and clinicians working in the field of genetics. OMIM is a comprehensive database that provides information on the genetic basis of various diseases, including rare syndromes such as Ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
The catalog contains detailed information about the genes associated with these rare conditions, as well as their inheritance patterns, clinical features, and available treatments. It also includes references to scientific articles and other resources for further reading.
Ankyloblepharon-ectodermal defects-cleft lippalate syndrome is a rare genetic condition characterized by multiple abnormalities, including cleft lip/palate, ectodermal defects (such as absent or defective teeth, hair, and sweat glands), and fusion of the eyelids.
OMIM provides a list of genes that are known to be associated with this condition, such as TP63 and IKZF2. These genes play a crucial role in the development of various tissues and organs and their mutations can cause the spectrum of abnormalities seen in Ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
The catalog also provides information about the frequency of this condition in the population, which is rare. It is estimated to affect less than 1 in 1 million individuals.
OMIM is a valuable tool for researchers and clinicians who want to learn more about Ankyloblepharon-ectodermal defects-cleft lippalate syndrome and other rare genetic diseases. It provides up-to-date information about the genes, clinical features, and inheritance patterns associated with these conditions.
In addition to OMIM, there are other resources available for support and advocacy for patients and families affected by Ankyloblepharon-ectodermal defects-cleft lippalate syndrome, such as the Rapp-Hodgkin Syndrome Foundation and the National Foundation for Ectodermal Dysplasias. These organizations provide information, resources, and support for individuals and families affected by these conditions.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and clinicians working in the field of genetics. It provides comprehensive information about the genetic basis, clinical features, and available treatments for a wide range of rare genetic diseases, including Ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
Scientific Articles on PubMed
Dermatology is the branch of medicine that deals with the study and treatment of skin diseases. Ankyloblepharon-ectodermal defects-cleft lippalate syndrome is a rare genetic condition that affects the skin, hair, nails, and glands. It is caused by mutations in certain genes.
To learn more about this condition, genetic testing is available to identify the specific gene mutations associated with it. The frequency of these mutations in the gene can vary from patient to patient.
The OMIM gene catalog provides additional information about this condition, including references to scientific articles on PubMed. These articles can help researchers and healthcare professionals learn more about the disease and its associated genetic mutations.
Rapp-Hodgkin syndrome, caused by mutations in the same genes, is also part of the spectrum of this condition. Other syndromes with similar symptoms and inheritance patterns may also be associated with ankyloblepharon-ectodermal defects-cleft lippalate syndrome.
Support and advocacy resources are available for patients and families affected by this rare condition. The Genetic and Rare Diseases Information Center provides information and support for individuals with rare diseases and their families.
In addition to the skin, this condition can also affect the hair, nails, and glands of the hands and feet. It can cause erosion and loss of the skin in these areas.
For more information about ankyloblepharon-ectodermal defects-cleft lippalate syndrome and other related conditions, refer to the scientific articles available on PubMed. These articles provide valuable insights into the genetic causes, symptoms, and treatment options for this rare condition.
References
1. Rapp-Hodgkin Syndrome. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov. Accessed July 15, 2021.
2. Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. OMIM. Available from: https://www.omim.org. Accessed July 15, 2021.
3. Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. Orphanet. Available from: https://www.orpha.net. Accessed July 15, 2021.
4. Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. National Organization for Rare Disorders. Available from: https://rarediseases.org. Accessed July 15, 2021.
5. Genetic Testing for Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov. Accessed July 15, 2021.
6. Diagnostic Exome Sequencing for Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov. Accessed July 15, 2021.
7. Genes associated with Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov. Accessed July 15, 2021.
8. Additional resources for Ankyloblepharon-ectodermal defects-cleft lippalate syndrome. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov. Accessed July 15, 2021.