Acromesomelic dysplasia, Hunter-Thomson type

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of 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.

Aliases

Acromesomelic dwarfism
acromesomelic dwarfism
acromesomelic dysplasia Hunter Thompson type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Hunter-Thompson type
AMDH