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Infantile cortical hyperostosis(CAFYD)

MedGen UID:
43781
Concept ID:
C0020497
Disease or Syndrome
Synonyms: Caffey Disease; Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE
SNOMED CT: Familial infantile cortical hyperostosis (24752008); Caffey syndrome (24752008); Caffey disease (24752008); Infantile cortical hyperostosis (24752008); Caffey's disease (24752008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): COL1A1 (17q21.33)
 
Monarch Initiative: MONDO:0007244
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, soft-tissue swelling, and pain, with onset between birth and five months and spontaneous resolution by age two years. Recurrence of bone hyperostosis, fever, soft-tissue swelling, and pain can occur later in life. Adults with a history of Caffey disease in childhood may have joint laxity, skin hyperextensibility, hernias, short stature, 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 descriptions

From OMIM
Caffey disease (CAFYD) is an autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. Painful swelling and systemic fever often accompany the episode, which usually begins before the age of 5 months and resolves before age 2 years. Laboratory findings include an elevated level of alkaline phosphatase and sometimes an elevation in white blood cell count and erythrocyte sedimentation rate. Recurrent episodes are uncommon (summary by Gensure et al., 2005).  http://www.omim.org/entry/114000
From MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/caffey-disease

Clinical features

From HPO
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Periosteal thickening of long tubular bones
MedGen UID:
322394
Concept ID:
C1834345
Finding
Thickening of the periosteum of long bone.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Calvarial hyperostosis
MedGen UID:
350147
Concept ID:
C1863351
Finding
Excessive growth of the calvaria.
Subperiosteal bone formation
MedGen UID:
393241
Concept ID:
C2674853
Finding
The formation of new bone along the cortex and underneath the periosteum of a bone.
Cortical irregularity
MedGen UID:
870691
Concept ID:
C4025145
Anatomical Abnormality
An abnormal irregularity of cortical bone.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

Term Hierarchy

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

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Prognosis

Kim ST, Kim H, Kim HH, Lee NH, Han Y, Sung SI, Chang YS, Park WS
Yonsei Med J 2019 May;60(5):484-486. doi: 10.3349/ymj.2019.60.5.484. PMID: 31016912Free PMC Article
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
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Clinical prediction guides

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