Mandibulofacial dysostosis with microcephaly

What causes mandibulofacial dysostosis with microcephaly?

Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.

Last updated on 05-01-20

Is genetic testing available for mandibulofacial dysostosis with microcephaly?

Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation.

When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered.

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated on 05-01-20

How is mandibulofacial dysostosis with microcephaly inherited?

Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.

Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.

Last updated on 05-01-20

What is mandibulofacial dysostosis with microcephaly?

Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.

Last updated on 05-01-20

Where can I find additional information about mandibulofacial dysostosis with microcephaly?

You can find relevant articles on mandibulofacial dysostosis with microcephaly (MFDM) through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "mandibulofacial dysostosis with microcephaly" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a sample search of articles about MFDM.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated on 05-01-20

Is mandibulofacial dysostosis with microcephaly considered a rare genetic condition? ****

Yes. Mandibulofacial dysostosis with microcephaly (MFDM) is a rare disorder but its exact prevalence is not known. More than 60 affected people have been reported to date in the medical literature. In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 people.

Last updated on 05-01-20

Are there any other names for mandibulofacial dysostosis with microcephaly?

There are several names and acronyms that have been used to describe mandibulofacial dysostosis with microcephaly, depending on the source. These include:

  • Mandibulofacial dysostosis, Guion-Almeida type
  • Mandibulofacial dysostosis-microcephaly syndrome
  • Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
  • MFDM

Last updated on 05-01-20

How might mandibulofacial dysostosis with microcephaly be treated?

Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome.

Additional treatment information is available on GeneReviews' Web site.

Last updated on 05-01-20

Name: The Arc of the United States 1825 K Street, NW Suite 1200
Washington, DC, DC, 20006, United States
Phone: +1-202-534-3700 Toll Free: 1-(800) 433-5255 Fax : +1-202-534-3731 Email: Url:
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: Url:
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: Url:
Name: Ameriface PO Box 751112
Las Vegas, NV, 89136, United States
Phone: 702-769-9264 Toll Free: 888-486-1209 Email: Url:
Name: World Craniofacial Foundation P.O. Box 515838
Dallas, TX, 75251-5838, United States
Phone: 972-566-6669 Toll Free: 800-533-3315 Fax : 972-566-3850 Email: Url:
Name: National Institute of Dental and Craniofacial Research Building 31, Room 2C39 31 Center Drive, MSC 2290
Bethesda, MD, 20892,
Phone: 301-496-4261 Toll Free: 866-232-4528 Email: Url:

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