Craniometaphyseal dysplasia recessive type

Craniometaphyseal Dysplasia, Recessive Type is a rare genetic disorder characterized by abnormal bone development, particularly in the skull (cranium) and the long bones. This condition is one of the types of Craniometaphyseal Dysplasia (CMD), which affects the metaphyses of the bones. The recessive type means that a person must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Symptoms

The symptoms of Craniometaphyseal Dysplasia, Recessive Type, can vary but often include:

• Thickening of the cranial bones, leading to an abnormal facial appearance
• Narrowing of the nasal passages, causing breathing difficulties
• Dental problems due to the abnormal bone growth
• Hearing loss, which can be progressive
• Vision problems due to the pressure on the optic nerve

Causes

Craniometaphyseal Dysplasia, Recessive Type, is caused by mutations in a specific gene. However, the exact gene associated with the recessive form of CMD has not been clearly identified, distinguishing it from the autosomal dominant form, which is well known to be caused by mutations in the ANKH gene.

Diagnosis

Diagnosis of Craniometaphyseal Dysplasia, Recessive Type, is primarily based on the clinical presentation and radiographic findings. Imaging tests such as X-rays, CT scans, and MRI can reveal characteristic abnormalities in the bones. Genetic testing may also be conducted to identify mutations, especially if there is a family history of the condition.

Treatment

There is no cure for Craniometaphyseal Dysplasia, Recessive Type, and treatment focuses on managing symptoms and improving quality of life. Surgical interventions may be necessary to address severe bone overgrowth, relieve pressure on the brain or cranial nerves, and correct dental abnormalities. Hearing aids and other assistive devices may be beneficial for those with hearing loss.

Prognosis

The prognosis for individuals with Craniometaphyseal Dysplasia, Recessive Type, varies depending on the severity of symptoms. While the condition does not typically affect cognitive development, physical complications can significantly impact the individual's quality of life.