Arthroosteoonychodysplasia Hereditary

Arthroosteoonychodysplasia hereditary: features of the disease

Arthroosteoonychodysplasia hereditary (AOHD) is a rare inherited disease that is characterized by changes in the structure of bones, joints and nails. The name of the disease comes from the Greek words "arthro" (joint), "osteon" (bone), "onyx" (nail) and "dysplasia" (change in shape).

AOHD is a rare disorder that is inherited through autosomal recessive inheritance. This means that for a child to develop AOHD, they must inherit the altered gene from both parents. If only one parent is a carrier of the AOHD gene, the child will not get the disease, but may become a carrier of the gene and pass it on to their offspring.

AOHD appears in early childhood, usually before the age of 2 years. The main symptoms of the disease include:

1. deformation of bones (especially the bones of the legs and arms);
2. dysfunction of the joints (often manifested by joint stiffness and pain);
3. changes in the structure of the nails (nails become thin, break easily and have an unusual shape).

In addition, patients with AOHD may experience delayed growth and development, as well as other conditions such as scoliosis or kyphosis.

Patients with AOHD require an individualized treatment approach based on the severity of symptoms. Treatment may include physical therapy, medications to reduce pain and inflammation, and surgery to correct bone and joint deformities.

Although AOHD is a rare disease, understanding its causes and mechanisms of development can help develop new methods for diagnosing and treating other bone and joint diseases.