What is craniofacial dysplasia?
Craniofacial fibrous dysplasia is a bone disease of the face and skull that replaces normal bone with fibrous-type tissue. This tissue is not as hard as normal bone, and because it is soft and stringy, it makes the bone more fragile and prone to break.
What is the causes of fibrous?
What causes fibrous dysplasia? The exact cause of fibrous dysplasia is not known. It is believed to be due to a chemical defect in a specific bone protein. This defect may be due to a gene mutation present at birth, although the condition is not known to be passed down in families.
Is fibrous dysplasia a bone tumor?
Fibrous dysplasia is not considered a tumor; it is a developmental disorder of the bone. It appears similar to a tumor on radiological studies. Fibrous dysplasia is caused by the inability of the bone-forming tissue to produce mature bone due to a genetic mutation in a G protein.
What causes bone irregularity?
Fibrous dysplasia is linked to a gene mutation present in certain cells that produce bone. The mutation results in the production of immature and irregular bone tissue. Most often the irregular bone tissue (lesion) is present at a single site on one bone.
What are craniofacial abnormalities?
Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person’s face or head looks.
What is craniofacial microsomia?
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures.
Can fibrous dysplasia become cancerous?
It is very rare for areas of fibrous dysplasia to become malignant or cancerous. This occurs in less than 1% of patients and is more likely to happen in patients with the polyostotic form of the condition or in patients with McCune-Albright syndrome.
What specialist treats fibrous dysplasia?
Patients with fibrous dysplasia who consult with their doctors are referred to an experienced orthopedic specialist like Dr. Allison who is best qualified to diagnose and treat the condition. Dr. Allison will order more tests to confirm the diagnosis and ascertain the extent of the disorder.
Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person’s face or head looks. These conditions may also affect other parts of the body.
How rare is ectodermal dysplasia?
Ectodermal Dysplasias are a group of rare disorders that may affect males and females in equal numbers. It is estimated the approximately 125,000 individuals in the United States are carriers for some form of the disease.
What is craniodiaphyseal dysplasia?
Craniodiaphyseal Dysplasia (CDD) is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity (Source: Craniodiaphyseal Dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.