Acromesomelic dysplasia 1, 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.

Also known as: acromesomelic dysplasia 1, Maroteaux type, acromesomelic dysplasia, Maroteaux type, AMDM, St. Helena dysplasia, acromesomelic dwarfism Maroteux type, acromesomelic dysplasia Maroteaux type

0 clinical trials for this condition and its sub-types, 0 tagged with Acromesomelic dysplasia 1, Maroteaux type itself.