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: Disorder
ICD-10: Q77.8



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