Mandibulofacial dysostosis with microcephaly
Other Names for this Disease
- Mandibulofacial dysostosis, Guion-Almeida type
- Mandibulofacial dysostosis-microcephaly syndrome
- Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
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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.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
Last updated: 7/27/2015
- Mandibulofacial dysostosis with microcephaly. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly.
- Matthew Lines, Taila Hartley, and Kym Boycott. Mandibulofacial Dysostosis with Microcephaly. GeneReviews. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK214367/.
- Genetics Home Reference (GHR) contains information on Mandibulofacial dysostosis with microcephaly. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.