Main Image

About Craniometaphyseal Dysplasia

What is Craniometaphyseal Dysplasia?

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that affects the bones of the skull and the long bones of the arms and legs. It is characterized by thickening of the skull bones, enlargement of the jawbone, and abnormal growth of the long bones. Symptoms may include hearing loss, vision problems, and respiratory difficulties. Treatment typically involves physical therapy, medications, and surgery.

What are the symptoms of Craniometaphyseal Dysplasia?

The symptoms of Craniometaphyseal Dysplasia (CMD) vary from person to person, but may include:

-Delayed growth and development

-Short stature

-Thickening of the skull bones

-Underdeveloped facial bones

-Widely spaced eyes

-Widely spaced teeth

-Enlarged forehead

-Enlarged jaw

-Enlarged nose

-Enlarged ears

-Enlarged chin

-Enlarged lower jaw

-Enlarged upper jaw

-Enlarged cheekbones

-Enlarged forehead

-Enlarged mandible

-Enlarged maxilla

-Enlarged zygomatic arches

-Enlarged nasal bridge

What are the causes of Craniometaphyseal Dysplasia?

Craniometaphyseal Dysplasia (CMD) is a rare genetic disorder caused by mutations in the ANKH gene. This gene is responsible for producing a protein that helps regulate the development of bones and cartilage. Mutations in this gene can lead to abnormal bone and cartilage growth, resulting in CMD.

What are the treatments for Craniometaphyseal Dysplasia?

The treatments for Craniometaphyseal Dysplasia vary depending on the severity of the condition and the individual's symptoms. Treatment may include:

1. Surgery: Surgery may be necessary to correct any skeletal deformities or to repair any damage to the bones or soft tissues.

2. Physical therapy: Physical therapy can help improve mobility and strength.

3. Medications: Medications may be prescribed to help manage pain and other symptoms.

4. Orthotics: Orthotics may be used to help support the body and improve posture.

5. Dietary changes: Dietary changes may be necessary to ensure adequate nutrition and to help manage any digestive issues.

6. Speech therapy: Speech therapy may be necessary to help improve communication skills.

7. Occupational therapy: Occupational therapy may be necessary to help

What are the risk factors for Craniometaphyseal Dysplasia?

1. Genetic mutation: Craniometaphyseal Dysplasia is caused by a mutation in the gene that codes for the protein called CMP-N-acetyltransferase.

2. Family history: Craniometaphyseal Dysplasia is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Ethnicity: Craniometaphyseal Dysplasia is more common in certain ethnic groups, such as African Americans and Native Americans.

Is there a cure/medications for Craniometaphyseal Dysplasia?

There is no cure for craniometaphyseal dysplasia, but medications can be used to manage the symptoms. These medications may include pain relievers, calcium and vitamin D supplements, and medications to help with breathing difficulties. Surgery may also be necessary to correct any skeletal deformities.