Mandibulofacial dysostosis-microcephaly syndrome

People with this condition are usually born with congenital microcephaly, the type of microcephaly individuals with this condition exhibit progressive microcephaly, this condition gives the appearance that the head is getting smaller as one ages, this is not true whatsoever; what is actually happening is that the head does not grow at the same rate as the rest of the body. Other craniofacial dysmorphisms include malar hypoplasia, midface and cheekbone hypoplasia, micrognathia, and small abnormally-shaped ears. Bilateral choanal atresia can cause respiratory distress and, in most cases, arrest. Esophageal atresia and tracheoesophageal fistula can be deadly if they are left untreated. The latter causes an abnormal connection between the esophagus and the trachea, which causes esophageal fluids to enter the airways and cause respiratory problems. The combination of both esophageal atresia and tracheoesophageal fistula is especially life-threatening due to feeding difficulties and recurrent esophageal fluid exposure-associated lung damage. == Causes ==

This condition is caused by inherited autosomal recessive mutations in the EFTUD2 gene. These mutations can either be missense, splice-site, or the result of a microdeletion. This gene is essential for the formation of spliceosomes, which helps in producing and maturing messenger RNA. The mutations involved in MFDM cause EFTUD2 enzymes with little to no function, which likely impairs the process of maturing mRNA. == Diagnosis ==

It can be diagnosed by a thorough examination of the patient's symptoms and genetic testing. == Treatment ==

Treatment is done on the symptoms themselves: • For craniofacial dysmorphisms: correctional surgeries such as oromaxillofacial surgery, dentistry service, etc. • For developmental delays: occupational and speech/language therapy. • For respiratory abnormalities: intubation, tracheostomy. • For hearing loss: cochlear implant, bone-anchored hearing aids. == Prevalence ==

Around 100 cases have been described in the medical literature. == History ==

This disorder was discovered in the year 2000, when Guion-Almeida et al., described 2 Brazilian brothers with growth delays, intellectual disabilities, trigonocephaly, microcephaly, preauricular tags, and cleft palate. They did a follow-up on these patients and 2 new ones: Brazilian siblings of the opposite sex (male and female), they found additional findings they had failed to describe before: zygomatic arc hypoplasia, and micrognathia. They had severe speech/language delay, they found this to be part of a brand new autosomal recessive mandibulofacial dysostosis entity. == See also ==