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.
MONDO:0019696
acromesomelic dysplasia
is_a
AMDM
related
acromesomelic dwarfism Maroteux type
related
acromesomelic dysplasia 1, Maroteaux type
exact
acromesomelic dysplasia Maroteaux type
related
acromesomelic dysplasia, Maroteaux type
exact