Melnick-Needles syndrome (MNS) is a rare genetic disorder characterized by skeletal abnormalities, including short stature, scoliosis, and malformed bones in the hands and feet. It is caused by a mutation in the COL11A2 gene, which is responsible for producing a protein that helps form collagen fibers. Symptoms may also include hearing loss, vision problems, and intellectual disability. Treatment typically involves physical therapy, orthopedic surgery, and hearing aids.

The most common symptoms of Melnick-Needles syndrome include skeletal abnormalities, facial dysmorphism, and intellectual disability. Skeletal abnormalities may include scoliosis, kyphosis, and joint contractures. Facial dysmorphism may include a broad forehead, hypertelorism, a broad nasal bridge, a long philtrum, and a thin upper lip. Intellectual disability is usually mild to moderate. Other symptoms may include hearing loss, vision problems, and cardiac defects.

Melnick-Needles syndrome is a rare genetic disorder caused by a mutation in the COL11A2 gene. This gene is responsible for producing a protein that helps form collagen, which is a major component of connective tissue. The mutation in the gene causes the body to produce an abnormal form of collagen, which can lead to the development of Melnick-Needles syndrome.

The treatments for Melnick-Needles syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help control seizures, hormone replacement therapy, and dietary modifications. In some cases, genetic counseling may be recommended.

The primary risk factor for Melnick-Needles syndrome is having a parent who carries a mutation in the COL11A2 gene. Other risk factors include having a family history of the disorder, being of Ashkenazi Jewish descent, and being a male.

At this time, there is no cure for Melnick-Needles syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, pain, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and strength.