Akromesomelisk dysplasi, Hunter-Thompson type
Engelsk navn: Acromesomelic dysplasia, Hunter-Thompson type
Engelske synonym: Acromesomelic dwarfism
Definisjon
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.
Fra Orphanet
ORPHA: 968
Klassifiseringsnivå: Disorder
ICD-10: Q78.8
Mer informasjon
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