Akromesomelisk dysplasi, Hunter-Thompson type

Engelsk navn: Acromesomelic dysplasia, Hunter-Thompson type
Engelske synonym: Acromesomelic dwarfism

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.


TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 968
Klassifiseringsnivå: Disorder
ICD-10: Q78.8

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