Cerebrocostomandibular syndrome (CCMS) is an extremely rare inherited condition characterized by an abnormally small jaw (micrognathia), abnormalities of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis) and rib defects. Though it is an inherited condition, the majority of cases reported in medical literature appear to have occurred sporadically or randomly. Research suggests this is because CCMS is inherited as an autosomal recessive genetic trait with high penetrance (characteristics typically manifest in those that have the gene). CCMS can be diagnosed before birth with imaging technology but is usually diagnosed after birth with a thorough clinical evaluation. Treatment for CCMS normally involves a team of different health specialists to treat lung abnormalities and speech and hearing problems among other symptoms.
Organizations exist to provide resources and support to individuals facing rare conditions. Information provided in part by our partner NORD.