Question: How many people are affected by mandibulofacial dysostosis with microcephaly ?
Answer: MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature.
Source: GHR

Question: What are the genetic changes related to mandibulofacial dysostosis with microcephaly ?
Answer: MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules. EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.
Source: GHR

Question: Is mandibulofacial dysostosis with microcephaly inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition.
Source: GHR

Question: What are the treatments for mandibulofacial dysostosis with microcephaly ?
Answer: These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR