Akromesomelisk dysplasi, Grebe Type
Engelsk navn: Acromesomelic dysplasia, Grebe type
Engelske synonym: Chondrodysplasia, Grebe type
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Informasjon
TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 2098
Klassifiseringsnivå: DisorderICD-10: Q78.8
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
