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.;
Origin ID : 2128783945;
UMLS CUI : C0265260;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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.
