acromesomelic dysplasia

Acromesomelic dysplasia is a very rare, inherited condition that affects the bones and leads to a form of short-limb dwarfism. This condition is characterized by unusually short forearms and forelegs (mesomelia) along with shortened bones in the hands and feet (acromelia). At birth, the hands and feet may look abnormally short and broad. Over time, the differences in limb proportions may become even more noticeable, especially in the early years of life. People with this condition may also have other features such as limited ability to fully extend the arms, a curved spine, an enlarged head, and a slightly flattened midface. There are different types of acromesomelic dysplasia, including the Maroteaux type, the Hunter-Thompson type, and the Grebe type, with each type being linked to a different genetic cause.

Common signs include very short forearms and forelegs, along with shortened bones in the hands and feet. Other noticeable features can be an enlarged head, limited extension of the elbows and arms, and a progressively curved spine. The appearance of the hands and feet as being unusually short and broad is also typical.

Acromesomelic dysplasia is inherited as an autosomal recessive trait, which means a child needs to receive a copy of the gene mutation from each parent to show symptoms. There are different types of the condition, and each is linked to a distinct genetic cause. This means that while they share common physical features, the specific genetic changes can vary among the different types.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.