acromesomelic dysplasia 1, Maroteaux type

Acromesomelic dysplasia 1, Maroteaux type is a rare genetic condition that affects the growth of bones. It is characterized by severe dwarfism with an adult height usually over 120 cm. In this condition, both the central part of the skeleton (axial) and the limbs (appendicular) are affected, leading to significant shortening of the middle and distal segments of the limbs as well as the vertebrae. People with this condition typically have a normal facial appearance and normal intelligence. This form of acromesomelic dysplasia is considered less severe compared to some other types such as acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.

Common symptoms of this condition include severe dwarfism, shortening of the middle and distal parts of the arms and legs, and a shortened spine due to vertebral involvement. Despite these physical changes, individuals usually have a normal appearance of the face and normal intellectual abilities.

This condition is caused by genetic changes and is inherited in an autosomal recessive manner, meaning that a person must receive a copy of the mutated gene from both parents to be affected. The gene known to be associated with this disorder is NPR2.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.