acromesomelic dysplasia 2C, Hunter-Thompson 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.
MONDO:0019696
acromesomelic dysplasia
is_a
AMDH
related
acromesomelic dwarfism
exact
acromesomelic dysplasia 2C, Hunter-Thompson type
exact
acromesomelic dysplasia Hunter Thompson type
related
acromesomelic dysplasia, Hunter-Thompson type
exact