Acromesomelic dysplasia, Maroteaux type
From BugSigDB
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.
- Aliases
- acromesomelic dwarfism Maroteux type
- acromesomelic dysplasia Maroteaux type
- acromesomelic dysplasia, Maroteaux type
- acromesomelic dysplasia, Maroteaux type
- AMDM
- St. Helena dysplasia
