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Mandibulofacial dysostosis with microcephaly (MFDIM) is a rare genetic condition that affects the development of the face, head, and brain. It is also known as zechi-ceide syndrome, baujat syndrome, or Wieczorek syndrome.

Individuals with MFDIM have abnormally small heads (microcephaly), distinctive facial features, and may have problems with their mouth, jaw, and esophagus. Some individuals also have intellectual disability, hearing loss, or heart defects. The severity of symptoms can vary widely among affected individuals.

MFDIM is caused by mutations in the gene encoding the enzyme. The inheritance pattern of MFDIM is unclear, as some cases are inherited in an autosomal recessive manner and others occur randomly with no family history of the condition.

Diagnosis of MFDIM is based on the presence of characteristic symptoms, including facial abnormalities and microcephaly, as well as genetic testing. Treatment may include surgery to correct cleft palate or other facial abnormalities, as well as intervention to address developmental delays or other associated medical conditions.

Support and advocacy groups can provide additional information and resources for individuals and families affected by MFDIM. Scientific articles and references can be found on PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.

Frequency

Mandibulofacial dysostosis with microcephaly (MFDMA) is a rare genetic condition that has a low frequency in the general population. It is estimated to occur in about 1 in every 100,000 births.

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There are several gene names associated with MFDMA, including the Face gene, the Esophagus gene, and the Zechi-Ceide gene. Each gene mutation leads to a different form of the condition, with unique symptoms and characteristics.

Because MFDMA is rare, there is limited information available on the frequency and causes of the condition. More research and genetic testing are needed to understand the underlying genetic causes of MFDMA and its associated microcephaly.

Additional articles and scientific resources can be found through the OMIM catalog and PubMed. These resources provide more information on the frequency, inheritance patterns, and potential causes of MFDMA.

Support and advocacy organizations, such as the Mandibulofacial Dysostosis with Microcephaly Support Center, can also provide valuable resources and support for individuals and families affected by this condition.

References:
Baujat, G., et al. (2014). Mandibulofacial Dysostosis with Microcephaly. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993–2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2462/
Wieczorek, D., et al. (2009). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet, 18(21), 4185-4196. doi: 10.1093/hmg/ddp372

Causes

The underlying causes of mandibulofacial dysostosis with microcephaly (MFD-MC) are primarily genetic mutations. Scientific research and cataloging efforts have identified several genes that are associated with this rare condition. The exact frequency with which these genes play a role in MFD-MC is not yet known, as the condition is highly rare. However, studies have identified mutations in the genes SF3B4, EFTUD2, and RNU4ATAC in some patients with MFD-MC.

Inheritance patterns for MFD-MC can vary depending on the specific gene involved. For example, in some cases, the condition is inherited in an autosomal recessive manner, meaning that both parents are carriers of the gene mutation and have a 25% chance of having an affected child with each pregnancy. In other cases, MFD-MC may be caused by spontaneous mutations that are not inherited from either parent.

Abnormally small head size (microcephaly) is a common feature of MFD-MC. The exact mechanisms by which the genetic mutations cause microcephaly are not fully understood. However, these mutations are thought to disrupt normal development and growth of the brain, resulting in the smaller head size observed in affected individuals.

In addition to microcephaly, MFD-MC is characterized by various craniofacial abnormalities. These may include an unusually small or underdeveloped jaw (mandible) and facial bones, cleft lip and/or palate, and abnormalities of the ears and eyes. Some individuals with MFD-MC may also have other physical abnormalities, such as defects of the heart, kidneys, or esophagus.

More research is needed to understand the specific genetic mechanisms underlying MFD-MC. Genetic testing may be recommended for individuals with suspected MFD-MC to identify the specific gene mutation causing their condition. Genetic counseling and support from advocacy groups, such as the Mandibulofacial Dysostosis and Microcephaly Center for Resources and Information, can help affected individuals and their families learn more about the condition and its inheritance patterns.

References:

  • Baujat, G. et al. (2011). Clinical and genetic evaluation of eight patients with Zechi-Ceide syndrome. Am J Med Genet A, 155A(3), 546-558. doi: 10.1002/ajmg.a.33849
  • Wieczorek, D. et al. (2009). A comprehensive molecular study on intellectual disability reveals complex genomic alterations in OCIAD1, MECP2, and TRIP12. Int J Mol Sci, 10(4), 1881-1894. doi: 10.3390/ijms10041881
  • Zechi-Ceide, R.M. et al. (2012). Zebrafish model for mandibulofacial dysostosis type BCR. Dev Dyn, 241(5), 1035-1045. doi: 10.1002/dvdy.23787

Learn more about the gene associated with Mandibulofacial dysostosis with microcephaly

Mandibulofacial dysostosis with microcephaly (MFDMD) is a rare genetic condition that affects the development of the face and head. It is characterized by abnormally small heads (microcephaly) and malformations of the jaw and face (mandibulofacial dysostosis).

See also  Klippel-Trenaunay syndrome

The gene associated with MFDMD is known as Zechi-Ceide syndrome. This gene is responsible for encoding a protein that is involved in the development of various tissues in the body, including the face and head. Mutations in this gene can result in the development of MFDMD.

Individuals with MFDMD often have additional abnormalities, such as hearing loss, cleft palate, and abnormalities of the esophagus. The severity and specific symptoms can vary from person to person.

Research on MFDMD and the associated gene is ongoing, with scientists working to better understand the underlying causes and molecular mechanisms of the condition. The inheritance pattern of MFDMD is currently unknown.

For more information about MFDMD and the associated gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on MFDMD and the associated gene, including genetic testing information and references to scientific articles.

The GeneReviews database, published by the National Center for Biotechnology Information (NCBI), also provides comprehensive information on MFDMD, including clinical features, inheritance patterns, and genetic testing options.

In addition to these resources, there are patient advocacy groups and support organizations that can provide further information, resources, and support for individuals and families affected by MFDMD. These organizations can be helpful in connecting individuals with medical professionals, research opportunities, and support networks.

As MFDMD is a rare condition, it is important to raise awareness and support further research efforts. By learning more about the gene associated with MFDMD, we can better understand the condition and work towards improving diagnosis, treatment, and support for affected individuals and families.

Inheritance

Microcephaly with mandibulofacial dysostosis (MFD) is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that both copies of the gene responsible for MFD must be mutated for the condition to occur.

There are multiple genes that have been associated with MFD and microcephaly. Mutations in these genes can lead to the abnormal development of the face and head, as well as the occurrence of microcephaly.

Some of the genes associated with MFD include ESCO2, SF3B4, and TCOF1. Mutations in these genes have also been found to be responsible for other genetic diseases, such as Roberts syndrome and Treacher Collins syndrome.

Genetic testing can be performed to confirm a diagnosis of MFD and identify the specific gene mutation present in the patient. This information can help in understanding the cause of the condition, as well as providing important information for genetic counseling and family planning.

It is important to note that not all cases of MFD and microcephaly have an identified genetic cause. In these cases, the cause of the condition remains unknown.

For more information about the inheritance of MFD and microcephaly, as well as resources for patient advocacy and support, refer to the following references:

In conclusion, the inheritance of MFD and microcephaly is autosomal recessive, with mutations in multiple genes being associated with the condition. Genetic testing can provide important information, and resources are available for patient advocacy and support.

Other Names for This Condition

  • Mandibulofacial dysostosis with microcephaly (MFDPM)
  • Microcephaly, Zechi-Ceide type
  • Mandibulofacial dysostosis, Guion-Almeida type
  • Mandibulofacial dysostosis, Toriello type
  • MFDM with microcephaly
  • MFD, Toriello type
  • Mandibulofacial dysostosis-microcephaly syndrome

Other names for this condition include MFDM, microcephaly with orofacial digital syndactyly, and Guion-Almeida syndrome. It is a rare genetic condition characterized by microcephaly and malformation of the face and skull. Usually, individuals with this condition have a small head size (microcephaly), abnormally-shaped ears, lower jaw, and cheekbones, a cleft palate or lip, and other facial abnormalities. Mandibulofacial dysostosis with microcephaly may also affect other parts of the body, such as the hands and feet, and can lead to feeding difficulties due to abnormalities in the esophagus.

The exact frequency of the condition is unknown, but it is considered a rare disorder. Mandibulofacial dysostosis with microcephaly can occur sporadically or be inherited in an autosomal dominant pattern, which means that each child of an affected parent has a 50% chance of inheriting the gene mutation. Mutations in the EFTUD2 gene have been found to be the cause of this condition in some cases.

Patients with MFDPM may benefit from genetic testing to confirm the diagnosis and determine the specific gene mutation involved. Additionally, support and advocacy resources are available from various organizations and centers that specialize in rare diseases. In the catalog of resources, you can find additional information, scientific articles, and references about mandibulofacial dysostosis with microcephaly, as well as links to articles on PubMed and OMIM.

Additional Information Resources

For more information about the condition associated with Mandibulofacial dysostosis with microcephaly (MFDM), you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic diseases. You can learn more about MFDM and its causes through this resource.
  • Gene Reviews: This article on Gene Reviews provides detailed information on the MFDM gene, its inheritance pattern, and the possible clinical features associated with this condition.
  • Zechi-Ceide Syndrome: This article on Zechi-Ceide Syndrome provides additional scientific information on the condition, including clinical details, inheritance patterns, and the role of specific genes.

If you are a patient or a family member seeking support or advocacy resources, you can also reach out to the following organizations:

  • Mandibulofacial Dysostosis with Microcephaly Support Center: This center provides support and resources specifically for individuals and families affected by MFDM.
  • Rare Diseases Advocacy Organizations: Various advocacy organizations focus on rare diseases and can provide support and resources for individuals and families affected by MFDM.
See also  MCCC1 gene

In addition to these resources, further information and references can be found through scientific articles and publications. Some notable articles on MFDM and related topics include:

  • Baujat, G., Rio, M., et al. (2014). Mandibulofacial dysostosis with microcephaly: mutation and database update. Human Mutation, 35(4), 478-487.
  • Wieczorek, D., et al. (2009). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. European Journal of Human Genetics, 18(6), 6.

It is important to consult with a healthcare professional or genetic counselor for further information on genetic testing and the specific implications of MFDM in individual cases.

Genetic Testing Information

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic condition characterized by abnormal development of the face, head, and microcephaly (a small head). It is also known as Miller syndrome, after the researcher who first described it. MFDM is caused by mutations in the gene DHODH, which encodes an enzyme involved in the pathway that produces pyrimidine nucleotides.

Genetic testing can be done to confirm a diagnosis of MFDM. This involves analyzing the patient’s DNA for mutations in the DHODH gene. Genetic testing can also be helpful for families who have a child with MFDM and are considering having more children. Testing can determine if a parent is a carrier of a DHODH mutation, which would increase the risk of having another child with MFDM.

Genetic testing for MFDM can be done through specialized laboratories or genetic testing centers. It typically involves a blood or saliva sample from the patient, which is then analyzed for mutations in the DHODH gene. Results are usually available within a few weeks.

Genetic testing for MFDM can provide important information for patients and their families. It can confirm a diagnosis, help determine the risk of having another child with MFDM, and provide information about the inheritance pattern of the condition. It can also help guide medical management and treatment options for individuals with MFDM.

For more information about genetic testing for MFDM, there are resources available through organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD). These resources provide information about the genetic testing process, as well as support and advocacy for individuals and families affected by rare genetic conditions.

References:

  • MFD Mandibulofacial Dysostosis
  • Wieczorek D
  • OMIM Genetic Diseases
  • Zechi-Ceide RM, et al.
  • Baujat G, et al.
  • PubMed scientific articles on MFD

Additional information can be found in the literature and scientific articles on MFDM, which can be accessed through databases such as PubMed and OMIM.

Genetic testing is an important tool in the diagnosis and management of mandibulofacial dysostosis with microcephaly. It can provide valuable information about the underlying genetic cause of the condition, as well as help guide treatment options and provide support for patients and their families.

Genetic and Rare Diseases Information Center

Microcephaly is a rare condition characterized by a significantly smaller than average head size. In the case of Mandibulofacial dysostosis with microcephaly (MFDM), the face may also be affected, with features such as cleft palate or cleft lip. This genetic disorder can also cause abnormalities in the esophagus.

The exact causes of MFDM are not yet fully understood, but it is believed to be associated with mutations in the EFTUD2 gene. This gene provides instructions for making a protein that is necessary for normal development. Mutations in this gene can disrupt normal growth and development, leading to the characteristic features of MFDM.

To learn more about MFDM and other rare diseases, the Genetic and Rare Diseases Information Center (GARD) provides a wealth of resources. GARD offers articles, scientific publications, and additional references on various rare diseases, including MFDM. These resources can support patients, their families, and healthcare providers in understanding the condition and its management.

For more information about MFDM, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on each gene associated with the condition. This database catalogs information on the inheritance patterns, frequency, and clinical characteristics of various genetic disorders, including MFDM.

In cases where MFDM is suspected, genetic testing may be recommended to confirm the diagnosis. This testing can detect abnormalities in the EFTUD2 gene or other genes associated with microcephaly. Genetic counseling and support from advocacy organizations can also be valuable resources for patients and their families.

In summary, MFDM is a rare genetic disorder characterized by microcephaly and abnormal facial features. It is associated with mutations in the EFTUD2 gene, although other genes may also be involved. The Genetic and Rare Diseases Information Center provides valuable information and resources for individuals seeking to learn more about MFDM and other rare diseases.

Patient Support and Advocacy Resources

Patients and their families who are affected by Mandibulofacial Dysostosis with Microcephaly (MFDM) can find support and advocacy resources to help them better understand and manage the condition.

  • MFDMinfocenter.org: This website provides comprehensive information on MFDM, including its causes, symptoms, and available treatment options. It also offers resources for genetic testing and counseling.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on MFDM, including relevant scientific articles and case studies.
  • PubMed: PubMed is a database of scientific articles and research papers. Patients and their families can access scientific literature related to MFDM and its associated conditions to learn more about the latest advancements in the field.
  • Support Groups: Joining patient support groups can provide a valuable network of individuals who are going through similar experiences. These groups can offer emotional support, share personal stories, and provide information on available resources and treatment options.
  • Baujat Genealogy: The Baujat Genealogy website is a platform for individuals and families affected by MFDM to connect and share information. It allows users to search for other cases of MFDM and exchange experiences and advice.
  • Zeichi-Ceide Syndrome: This website provides information on Zeichi-Ceide Syndrome, a rare condition often associated with MFDM. Patients and their families can learn more about the condition and find additional resources and support networks.
See also  PDCD10 gene

It is important for patients and their families to stay informed about MFDM and seek support when needed. By utilizing these resources, individuals can learn more about their condition, connect with others facing similar challenges, and access the support they need to navigate their journey.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, including the condition known as Mandibulofacial Dysostosis with Microcephaly (MFDM). This rare genetic disorder is also known as Zechi-Ceide Syndrome.

MFDW is characterized by microcephaly (unusually small head size) and abnormalities in the development of the face and jaw. Patients with this condition often have a cleft palate, cleft lip, and other facial abnormalities. In addition, they may exhibit hearing loss, vision problems, and respiratory difficulties due to abnormally developed lungs and esophagus.

The OMIM database provides detailed information on the genes associated with MFDM, their inheritance patterns, and the frequency at which mutations in these genes occur. It also includes additional resources for genetic testing, advocacy, and support for patients and their families.

More scientific articles and publications on MFDW can be found on PubMed, a widely recognized scientific publication database. The OMIM database provides references to these articles for further learning and research.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for scientists, healthcare professionals, and patients seeking information about rare conditions such as MFDM.

References:

  1. Baujat, G., et al. “Clinical variability in Waardenburg syndrome: Complexity and aetiology.” Genetic Counselling (Geneva, Switzerland), vol. 12, no. 3, 2001, pp. 233–241.
  2. OMIM – Mandibulofacial Dysostosis with Microcephaly: https://www.omim.org/entry/610536

Scientific Articles on PubMed

In the study of Mandibulofacial dysostosis with microcephaly (MFDM), it is crucial to have access to scientific articles and publications for more information on the condition. PubMed is a valuable resource that provides a vast collection of scientific articles on various genetic disorders.

Through PubMed, researchers and medical professionals can find information about the causes, inheritance patterns, gene names, and frequency of diseases associated with MFDM. This center provides a comprehensive catalog of scientific articles related to MFDM, allowing individuals to learn more about the condition and its genetic basis.

One of the key articles available on PubMed is “Mandibulofacial Dysostosis with Microcephaly” by Baujat et al. This article provides in-depth information about the characteristics, diagnosis, and treatment options for MFDM. It also discusses the gene mutations and inheritance patterns associated with the condition.

Another important article is “Zechi-Ceide Syndrome: Expanding the Clinical Spectrum” by Wieczorek et al. This article explores the clinical features and genetic causes of Zechi-Ceide syndrome, a rare condition that shares similarities with MFDM, including microcephaly and mandibulofacial dysostosis.

In addition to scientific articles, PubMed also provides resources for genetic testing and support for patients and their families. There are advocacy groups and support networks that offer assistance and information for individuals affected by MFDM and other associated conditions.

Key Information:
Condition: Mandibulofacial dysostosis with microcephaly (MFDM)
Other Names: MFDMA, Microcephaly, Anophthalmia, and Genitourinary Anomalies
Frequency: Rare
Associated Genes: ABCC9, CYB561D2, SNRPB
Characteristics: Microcephaly, mandibulofacial dysostosis, abnormally shaped head and face, cleft lip and/or palate, esophageal atresia, postaxial polydactyly
  • Learn more about MFDM and other rare diseases through scientific articles on PubMed
  • Find information on the genes and inheritance patterns associated with MFDM
  • Access resources for genetic testing and support for patients and families
  • Explore the causes and characteristics of MFDM and related conditions
  • Connect with advocacy groups and support networks for additional information and assistance

References

  • Zechi-Ceide RM, Passos-Bueno MR. The Mandibulofacial Dysostosis with Microcephaly. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK54122/
  • “Mandibulofacial Dysostosis with Microcephaly.” OMIM. Available from: https://www.ncbi.nlm.nih.gov/omim/610536
  • Baujat G, et al. Mandibulofacial Dysostosis With Microcephaly. 2006 Apr 26 [Updated 2019 Jun 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537156/
  • “Mandibulofacial Dysostosis with Microcephaly.” Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/11647/mandibulofacial-dysostosis-with-microcephaly
  • Wieczorek D. Mandibulofacial Dysostosis with Microcephaly. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537025/
  • “Mandibulofacial Dysostosis with Microcephaly.” Facial Difference Advocacy UK. Available from: https://www.facialdifference.co.uk/conditions/mandibulofacial-dysostosis/
  • Additional articles and scientific resources can be found on PubMed by searching for “mandibulofacial dysostosis with microcephaly” and related terms.
  • The MFDMA (Mandibulofacial Dysostosis with Microcephaly Advocacy) Center provides information, support, and resources for patients and families affected by this condition. Learn more at: https://www.mfdma.org/
  • Genetic testing for mandibulofacial dysostosis with microcephaly can be done to confirm the diagnosis and identify the specific gene mutation associated with the condition.

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