Akromesomelisk dysplasi, Maroteaux type
Engelsk navn: Acromesomelic dysplasia, Maroteaux type
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Informasjon
TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 40
Klassifiseringsnivå: DisorderICD-10: Q77.8
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
