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Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

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  • Akrodysostose (de)
  • Acrodysostosis (en)
  • Acrodisostosis (es)
  • Acrodysostose (fr)
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  • Die Akrodysostose (ACRDYS) ist eine sehr seltene angeborene Entwicklungsstörung mit geistiger Entwicklungsverzögerung, Gesichtsdysmorphie und Verkürzung von Hand- und Fußknochen. Synonyme sind: Akrodysostosis-Syndrom; Akrodysplasie; Arkless-Graham-Syndrom; Maroteaux-Malamut-Syndrom; PMN-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1967 durch die Ärzte R. Arkless und C. B. Graham, die Abgrenzung als Syndrom erfolgte im Folgejahr 1968 durch Pierre Maroteaux und Georges Malamut. (de)
  • Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. (en)
  • Acrodisostosis también conocido como síndrome de Graham-Arkless​ o el síndrome de Maroteaux-Malamut​​ es un síndrome poco frecuente caracterizado por malformaciones congénitas que consisten periférica (acortamiento de las de las manos y los pies), en aproximadamente el 90% de los niños afectados y facies peculiar. Otras anomalías frecuentes son braquicefalia (cabeza acortada en sentido ), pequeña nariz ancha hacia arriba con puente nasal plano, acromegalia, aumento de la edad ósea, retraso del crecimiento intrauterino, la artritis juvenil y la baja estatura. (es)
  • L'acrodysostose, également connue sous le nom d'acrodysplasie, de syndrome d' ou de syndrome de -, est une malformation congénitale rare qui entraîne un raccourcissement des articulations interphalangiennes des mains et des pieds, une déficience intellectuelle chez environ 90 % des enfants affectés, un retard de la croissance, une petite taille et un faciès particulier. La plupart des cas rapportés sont sporadiques ; quelques-uns sont familiaux à transmission autosomique dominante. (fr)
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  • Acrodysostosis syndrome (en)
name
  • Acrodysostosis syndrome (en)
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  • Q75.4 (en)
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  • Child with acrodysostosis (en)
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  • Arkless-Graham syndrome, Maroteaux-Malamut syndrome (en)
has abstract
  • Die Akrodysostose (ACRDYS) ist eine sehr seltene angeborene Entwicklungsstörung mit geistiger Entwicklungsverzögerung, Gesichtsdysmorphie und Verkürzung von Hand- und Fußknochen. Synonyme sind: Akrodysostosis-Syndrom; Akrodysplasie; Arkless-Graham-Syndrom; Maroteaux-Malamut-Syndrom; PMN-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1967 durch die Ärzte R. Arkless und C. B. Graham, die Abgrenzung als Syndrom erfolgte im Folgejahr 1968 durch Pierre Maroteaux und Georges Malamut. (de)
  • Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. (en)
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