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El síndrome de Marshall-Smith se consideró originalmente como un trastorno de sobrecrecimiento derivado de una maduración ósea acelerada. Está caracterizado por disostosis, con anomalías esqueléticas que incluyen cifoescoliosis progresiva, fallo del incremento ponderal postnatal, talla baja y osteopenia con fracturas.
El síndrome de Marshall Smith es una enfermedad genética incluida en el registro de enfermedades raras, con una incidencia no bien establecida, pero inferior a 1/100000, y con menos de 50 casos descritos hasta la fecha en la literatura médica 1. De etiología desconocida, se han descrito mutaciones “de novo” en los exones 2 y 6-10 del gen NFIX 2.
Marshall-Smith syndrome was originally considered as an overgrowth condition based on advanced bone maturation. It is characterized by a dysostosis with skeletal anomalies including progressive kyphoscoliosis, postnatal failure to thrive in weight, short stature, and osteopenia with fractures.
El síndrome de Marshall-Smith es una enfermedad genética rara caracterizada por estatura alta y edad ósea avanzada al nacer. Se desconoce la prevalencia, aunque se han reportado 30 casos en la literatura.
MSS is a rare condition that causes abnormal bone formation, growth, nutrition, breathing, mental and physical retardation, and facial features. It is caused by a spontaneous mutation in the NFIX gene and affects about 50 children and adults worldwide. Learn more about its symptoms, diagnosis, genetics, and treatment.
Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation.
Marshall-Smith Syndrome is an ultra-rare disease, only 50 children worldwide have this syndrome. And what about "strong together": parents, doctors, carers and volunteers worldwide are doing all they can to contribute to a better life for children with MSS and their families.
