What are the symptoms of Caffey syndrome?

Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width.

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What causes Caffey disease?

A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin.

How is Caffey syndrome treated?

No specific treatment exists for infantile cortical hyperostosis (Caffey disease). The disease is self-limited and usually resolves without sequelae. Some periods of exacerbation and remission may occur during the course of this condition.

Who discovered Caffey syndrome?

John Caffey (1895–1978) first described infantile cortical hyperostosis in 1945. He described a group of infants with tender swelling in the soft tissues and cortical thickenings in the skeleton, with onset of these findings during the first 3 months of life.

Which part of the body is affected by Gorham’s disease?

It may affect any part of the skeleton, but most commonly involves the skull, collarbone (clavicle), pelvis, ribs, spine, and/or jaw. Depending on the bones affected, various complications may occur. The cause of Gorham’s disease is currently unknown.

Can cherubism be cured?

Treatment of cherubism consists of local curettage of the lesions, jaw contouring, intralesional steroid injections, and systemic calcitonin administration as well. Calcitonin therapy for central giant cell granuloma of the jaws is well documented, and favorable results have been achieved.

What are the symptoms of cherubism?

Cherubism is a rare genetic condition that affects the bones of your lower jaw and sometimes upper jaw. The bones are replaced with cyst-like tissue growths that are not as dense….Symptoms

round, swollen-looking cheeks.
a wide jaw.
loose, misplaced, or missing teeth.
eyes that turn slightly upward (in advanced stages)

What kind of doctor treats Gorham’s disease?

Specialties include pediatrics, orthopedics, surgery, pulmonology, hematology, oncology, thoracic surgery, maxillofacial surgery, endocrinology and many others.

How common is cherubism?

Cherubism is a rare genetic condition that affects the bones of your lower jaw and sometimes upper jaw. The bones are replaced with cyst-like tissue growths that are not as dense. This makes the cheeks look round and swollen, but it is usually painless. About 200 cases of cherubism have been reported worldwide.

What causes cherubism?

The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16. 3. While the condition is rare and painless, the afflicted suffer the emotional trauma of disfigurement. The effects of cherubism may also interfere with normal jaw motion and speech.

How common is Hyperostosis?

Hyperostosis Frontalis Interna is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population.

Can Gorham’s disease be cured?

Treatment of Gorham’s disease is for the most part palliative and limited to symptom management. Sometimes the bone destruction spontaneously ceases and no treatment is required. But when the disease is progressive, aggressive intervention may be necessary.

How do you test for Gorham’s disease?

There is no one test that can positively diagnose Gorham-Stout disease. Your child’s physician will conduct a thorough medical exam and ask questions to create a detailed medical history. Your child’s physician may also recommend one or more of the following tests: magnetic resonance imaging (MRI)

What is Caffey syndrome?

THIS ARTICLE IS A STUB. You can learn more about this topic in the related articles below. Caffey syndrome, also called infantile cortical hyperostosis, a hereditary disease of infants, characterized by swellings of the periosteum (the bone layer where new bone is produced) and the bone cortex of the upper arms, shoulder girdle, and lower jaw.

What are the signs and symptoms of Caffey disease?

Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles ( hernias ). Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature.

What type of mutation causes Caffey disease?

What is Kenny-Caffey syndrome type 2?

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital).