Marshall-Smith Syndrome (MRSHSS)

As early as 1971, Marshall and Smith reported a condition manifested by facial malformations, growth retardation, accompanied by abnormal bone maturation at young ages (Marshall et al. 1971). Craniofacial-associated symptoms comprise coarse hair, prominent forehead and premaxilla, midface hypoplasia, upturned nose, anteverted nares, short philtrum, everted lips, irregular dentition, retrognathia and gum hypertrophy, proptosis, hypertelorism, as well as narrow ear canals, pinnae deformities, and low set ears (Knie et al. 2021; Mulder et al. 2020; Noguchi et al. 2020; Aggarwal et al. 2017; Herman and Siegel 2015). The long tubular bones mostly reveal advanced skeletal maturation (Aggarwal et al. 2017). A nontraumatic fracture observed in some cases could indicate osteochondrodysplasia in Marshall-Smith syndrome (MRSHSS) (Adam et al. 2005). Intellectual disability and behavioral problems are among other hallmarks of this condition. MRSHSS is an incredibly rare syndrome with a prevalence of less than one in a million (Mulder et al. 2020). In most cases, the syndrome manifestations appear before birth (Aggarwal et al. 2017).