Acromicric dysplasia

Acromicric dysplasia refers to a rare bone dysplasia with less than 60 cases described so far. Typical symptoms include dwarfism, facial dysmorphism and short limbs, hands and feet.

At birth, the body size is still normal, but falls rapidly below average when the child grows up and stagnates at around 1.3 meters. Other incidences include short limbs, hands and feet, as well as a round face, narrow eyelids, thick lips, and a small mouth.

The head circumference is normal and there is no intellectual disability. Other symptoms may occur during the course of the disease including a hoarse voice, spinal anomalies, limited mobility of the joints, ocular abnormalities and eventually a carpal tunnel syndrome.

Basically, there are mutations in the FBN1 gene, the inheritance is autosomal dominant.