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Infantile cortical hyperostosis

MedGen UID:
43781
Concept ID:
C0020497
Disease or Syndrome
Synonyms: Caffey Disease; 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, 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).
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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).  http://ghr.nlm.nih.gov/condition/caffey-disease

Clinical features

Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Craniofacial hyperostosis
MedGen UID:
358122
Concept ID:
C1868085
Finding
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Calvarial hyperostosis
MedGen UID:
505653
Concept ID:
CN003983
Finding
Excessive growth of the calvaria.
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Periosteal thickening of long tubular bones
MedGen UID:
322394
Concept ID:
C1834345
Finding
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
Craniofacial hyperostosis
MedGen UID:
358122
Concept ID:
C1868085
Finding
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Calvarial hyperostosis
MedGen UID:
505653
Concept ID:
CN003983
Finding
Excessive growth of the calvaria.
Cortical irregularity
MedGen UID:
446700
Concept ID:
CN005070
Finding
An abnormal irregularity of cortical bone.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
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.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
Cellulitis
MedGen UID:
776558
Concept ID:
C2025995
Finding
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGInfantile 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. [Epub ahead of print] PMID: 23522764
Turnpenny PD, Davidson R, Stockdale EJ, Tolmie JL, Sutton AM
Clin Dysmorphol 1993 Jan;2(1):81-6. PMID: 8298744
Newberg AH, Tampas JP
AJR Am J Roentgenol 1981 Jul;137(1):93-6. doi: 10.2214/ajr.137.1.93. PMID: 6787897
Karjomanggolo WT, Tamaela LA, Farid M
Australas Radiol 1978 Sep;22(3):260-6. PMID: 393238
Finsterbush A, Rang M
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 21567126Free PMC Article
Lo HP, Lau HY, Li CH, So KT
Hong Kong Med J 2010 Oct;16(5):397-9. PMID: 20890006
Challapalli M, Cunningham DG, Varnado SC
Int J Pediatr Otorhinolaryngol 1998 Mar 1;43(2):175-8. PMID: 9578127

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. [Epub ahead of print] PMID: 18262694
Barr DG, Belton NR
Arch Dis Child 1991 Jan;66(1):140-2. PMID: 1847282Free PMC Article
Rogers SC, Jones GS
Practitioner 1969 Jul;202(213):81-4. PMID: 4895695
Wilson AK
Clin Orthop Relat Res 1969 Jan-Feb;62:209-17. PMID: 4886868
Pickering D, Cuddigan B
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. [Epub ahead of print] 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
Al-Tawil KI, Ahmed GS, Al-Hathal MM, Al-Zuwayed MA
Am J Perinatol 1998;15(11):629-33. doi: 10.1055/s-2007-994081. PMID: 10064204
Newberg AH, Tampas JP
AJR Am J Roentgenol 1981 Jul;137(1):93-6. doi: 10.2214/ajr.137.1.93. PMID: 6787897
Finsterbush A, Rang M
Acta Orthop Scand 1975 Nov;46(5):727-36. PMID: 1106113

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
Blank E
Pediatrics 1975 Jun;55(6):856-60. PMID: 1094401

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