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Infantile cortical hyperostosis(COL1A1)

MedGen UID:
43781
Concept ID:
C0020497
Disease or Syndrome
Synonyms: Caffey Disease; COL1A1; Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial infantile cortical hyperostosis (24752008); Caffey syndrome (24752008); Caffey disease (24752008); Infantile cortical hyperostosis (24752008); Caffey's disease (24752008)
 
Gene (location): COL1A1 (17q21.33)
OMIM®: 114000
Orphanet: ORPHA1310

Disease characteristics

Excerpted from the GeneReview: Caffey Disease
Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset around age two months and spontaneous resolution by age two years. On rare occasion, the hyperostosis can be detected by ultrasound examination late in the third trimester of pregnancy. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk for bone fractures and/or deformities. [from GeneReviews]
Authors:
Andrea Guerin  |  Lucie Dupuis  |  Roberto Mendoza-Londono   view full author information

Additional description

From GHR
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.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 imaging during the last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to be a separate disorder.For unknown reasons, the swelling and pain associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2. However, if two adjacent bones have fused, they may remain that way, possibly resulting in complications. For example, fused rib bones can lead to curvature of the spine (scoliosis) or limit expansion of the chest, resulting in breathing problems.Most people with Caffey disease 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 in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout the body. Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles (hernias).  https://ghr.nlm.nih.gov/condition/caffey-disease

Clinical features

Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Finding
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including. - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Periosteal thickening of long tubular bones
MedGen UID:
322394
Concept ID:
C1834345
Finding
Thickening of the periosteum of long bone.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Calvarial hyperostosis
MedGen UID:
350147
Concept ID:
C1863351
Finding
Excessive growth of the calvaria.
Calvarial hyperostosis
MedGen UID:
350147
Concept ID:
C1863351
Finding
Excessive growth of the calvaria.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile cortical hyperostosis
Follow this link to review classifications for Infantile cortical hyperostosis in Orphanet.

Recent clinical studies

Etiology

Shandilya R, Gadre KS, Sharma J, Joshi P
J Oral Maxillofac Surg 2013 Jul;71(7):1195-201. Epub 2013 Mar 21 doi: 10.1016/j.joms.2013.01.027. PMID: 23522764
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Acta Orthop Scand 1975 Nov;46(5):727-36. PMID: 1106113

Diagnosis

Shandilya R, Gadre KS, Sharma J, Joshi P
J Oral Maxillofac Surg 2013 Jul;71(7):1195-201. Epub 2013 Mar 21 doi: 10.1016/j.joms.2013.01.027. PMID: 23522764
Navarre P, Pehlivanov I, Morin B
J Pediatr Orthop 2013 Mar;33(2):e10-7. doi: 10.1097/BPO.0b013e318277d3a2. PMID: 23389580
Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B
Eur J Pediatr 2011 Nov;170(11):1385-90. Epub 2011 May 13 doi: 10.1007/s00431-011-1463-0. PMID: 21567126Free PMC Article
Lo HP, Lau HY, Li CH, So KT
Hong Kong Med J 2010 Oct;16(5):397-9. PMID: 20890006
Kamoun-Goldrat A, le Merrer M
J Oral Maxillofac Surg 2008 Oct;66(10):2145-50. doi: 10.1016/j.joms.2007.09.007. PMID: 18848116

Therapy

Wong YK, Cheng JC
Br J Oral Maxillofac Surg 2008 Sep;46(6):497-8. Epub 2008 Feb 11 doi: 10.1016/j.bjoms.2007.12.008. PMID: 18262694
Varma R, Johny VF
Indian Pediatr 2002 Nov;39(11):1057. PMID: 12466580
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Arch Dis Child 1991 Jan;66(1):140-2. PMID: 1847282Free PMC Article
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J Indian Med Assoc 1985 May;83(5):164-5. PMID: 3902982
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Lancet 1969 Aug 30;2(7618):464-5. PMID: 4183907

Prognosis

Shandilya R, Gadre KS, Sharma J, Joshi P
J Oral Maxillofac Surg 2013 Jul;71(7):1195-201. Epub 2013 Mar 21 doi: 10.1016/j.joms.2013.01.027. PMID: 23522764
Kamoun-Goldrat A, le Merrer M
J Oral Maxillofac Surg 2008 Oct;66(10):2145-50. doi: 10.1016/j.joms.2007.09.007. PMID: 18848116
Pomerance HH, Wallis-Crespo C, Barness EG
Fetal Pediatr Pathol 2005 Mar-Apr;24(2):89-94. doi: 10.1080/15227950591008303. PMID: 16243753
Wright JR Jr, Van den Hof MC, Macken MB
Prenat Diagn 2005 Oct;25(10):939-44. doi: 10.1002/pd.1235. PMID: 16193456
Dahlstrom JE, Arbuckle SM, Kozlowski K, Peek MJ, Thomson M, Reynolds GJ, Sillence DO
Pathology 2001 Nov;33(4):521-5. PMID: 11827425

Clinical prediction guides

Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V
Clin Genet 2007 Mar;71(3):280-4. doi: 10.1111/j.1399-0004.2007.00768.x. PMID: 17309652
Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H
J Clin Invest 2005 May;115(5):1250-7. doi: 10.1172/JCI22760. PMID: 15864348Free PMC Article
Leung VC, Lee KE
J Pediatr Orthop 1985 May-Jun;5(3):354-7. PMID: 3889053
BOWMAN JR, PISTON RE, MEEKS EA
Ann Allergy 1961 Oct;19:1154-60. PMID: 13872098
MOSSBERGER JI
AMA Am J Dis Child 1950 Oct;80(4):610-20. PMID: 14770479

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