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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mandibulofacial dysostosis with microcephaly


Other Names for this Disease
  • Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
  • Mandibulofacial dysostosis, Guion-Almeida type
  • Mandibulofacial dysostosis-microcephaly syndrome
  • MFDGA
  • MFDM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2]
Last updated: 7/27/2015

References

  1. Mandibulofacial dysostosis with microcephaly. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly.
  2. Matthew Lines, Taila Hartley, and Kym Boycott. Mandibulofacial Dysostosis with Microcephaly. GeneReviews. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK214367/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mandibulofacial dysostosis with microcephaly. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mandibulofacial dysostosis with microcephaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
  • Mandibulofacial dysostosis, Guion-Almeida type
  • Mandibulofacial dysostosis-microcephaly syndrome
  • MFDGA
  • MFDM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.