Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Caffey disease


Other Names for this Disease

  • Infantile cortical hyperostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the symptoms of Caffey disease?

Caffey disease is characterized by excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the jawbone, shoulder blades, collarbones, and the shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones in the forearms or lower legs become fused together. Babies with this condition may also develop swelling of joints and soft tissues with pain and redness in the affected areas. They may also be feverish and irritable.[1] 

The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound during the late stages of pregnancy. For unknown reasons, the swelling and pain associated with Caffey disease tend to go away within a few months. The excess bone also disappears as it is reabsorbed by the body through a normal process called bone remodeling. If two bones have been fused, they may remain that way, which can lead to complications such as scoliosis and breathing problems.[1]

Most people with Caffey syndrome have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease have other abnormalities of the bones and connective tissues, including loose joints, stretchy skin or hernias.[1]  
Last updated: 4/15/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Caffey disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal cortical bone morphology 90%
Cellulitis 90%
Abnormality of temperature regulation 50%
Behavioral abnormality 50%
Craniofacial hyperostosis 7.5%
Facial asymmetry 7.5%
Feeding difficulties in infancy 7.5%
Hypergammaglobulinemia 7.5%
Leukocytosis 7.5%
Proptosis 7.5%
Respiratory insufficiency 7.5%
Scoliosis 7.5%
Autosomal dominant inheritance -
Calvarial hyperostosis -
Cortical irregularity -
Fever -
Periosteal thickening of long tubular bones -
Tibial bowing -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Caffey disease. Genetics Home Reference (GHR). April 2013; http://ghr.nlm.nih.gov/condition/caffey-disease. Accessed 4/15/2014.


Other Names for this Disease
  • Infantile cortical hyperostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.