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
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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.
- 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.
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- 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.