" /> Acromesomelic dysplasia, Grebe type - CISMeF





Preferred Label : Acromesomelic dysplasia, Grebe type;

ICD-11 definition : Acromesomelic dysplasia Grebe type is a rare autosomal recessive disorder belonging to the group of osteochondrodysplasias. AMDG is characterized 1) clinically, by severe dwarfism with marked micromelia and deformation of upper and lower limbs, with a proximo distal gradient of severity, and 2) radiologically, by short and deformed middle long bones, fusion of carpal and tarsal bones, absence of proximal and middle phalanges and several metacarpal and metatarsal bones. The facial appearance and intelligence are normal, and there are no vertebral abnormalities.;

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Acromesomelic dysplasia Grebe type is a rare autosomal recessive disorder belonging to the group of osteochondrodysplasias. AMDG is characterized 1) clinically, by severe dwarfism with marked micromelia and deformation of upper and lower limbs, with a proximo distal gradient of severity, and 2) radiologically, by short and deformed middle long bones, fusion of carpal and tarsal bones, absence of proximal and middle phalanges and several metacarpal and metatarsal bones. The facial appearance and intelligence are normal, and there are no vertebral abnormalities.

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28/07/2025


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