{"Name":"Infantile cortical hyperostosis","DiseaseID__c":"GARD:0001051","id":1051,"encodedName":"infantile-cortical-hyperostosis","IsDeleted":false,"Disease_Name_Full__c":"Infantile cortical hyperostosis","Xref_IDs__c":"24752008; C0020497; C118423; D006958; DOID:4257; MEDGEN:43781; MONDO:0007244; OMIM:114000; ORPHA:1310","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007244","Disease_Description__c":"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.","GARD_Name__c":"Infantile cortical hyperostosis","GARD_Synonym__c":"caffey disease; caffey syndrome; caffey's disease; cortical congenital hyperostosis; familial infantile cortical hyperostosis; hyperostosis, cortical, congenital; p1pk blood group system, p(2) phenotype","Curated_Disease_Description_Source__c":"GARD:0001051","Curated_Disease_Description__c":"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).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1310","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007244","ORPHANET_ID__c":"ORPHA:1310","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de caffey","Spanish_Description_Source__c":"ORPHA:1310","Spanish_Description__c":"Es una displasia osteosclerótica caracterizada por inflamación aguda acompañada de una formación masiva de hueso nuevo perióstico que, por lo general, afecta a las diáfisis de los huesos largos, así como a las costillas, la mandíbula, la escápula y las clavículas. La enfermedad está asociada a fiebre, irritabilidad, dolor e inflamación de tejidos blandos con inicio alrededor de los 2 meses de edad y remisión espontánea a los 2 años. No obstante, también se han descrito casos de inicio prenatal de la enfermedad.","Spanish_Disease_Name__c":"enfermedad de caffey","Spanish_GARD_Synonym__c":"hiperostosis cortical del lactante","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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).","Curated_Disease_Description_Source__c":"GARD:0001051","GARD_Synonym__c":"caffey disease; caffey syndrome; caffey's disease; cortical congenital hyperostosis; familial infantile cortical hyperostosis; hyperostosis, cortical, congenital; p1pk blood group system, p(2) phenotype","Name":"Infantile cortical hyperostosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1310"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1310"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1310"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1310"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020497"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001051","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK99168","Source__c":"Gene Review","Xref__c":"NBK99168"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020497","Source__c":"C0020497","Xref__c":"C0020497"},{"URL__c":"https://www.orpha.net/en/disease/detail/1310","Source__c":"C0020497; MONDO:0007244; ORPHA:1310","Xref__c":"ORPHA:1310"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=43781","Source__c":"C0020497","Xref__c":"MEDGEN:43781"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4257","Source__c":"MONDO:0007244","Xref__c":"DOID:4257"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006958","Source__c":"C0020497; MONDO:0007244","Xref__c":"D006958"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24752008","Source__c":"C0020497; MONDO:0007244","Xref__c":"24752008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118423","Source__c":"C0020497; MONDO:0007244","Xref__c":"C118423"},{"URL__c":"https://www.omim.org/entry/114000","Source__c":"C0020497; MONDO:0007244; ORPHA:1310","Xref__c":"OMIM:114000"},{"URL__c":"https://medlineplus.gov/genetics/condition/caffey-disease","Source__c":"GARD:0001051","Xref__c":"https://medlineplus.gov/genetics/condition/caffey-disease"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84645","Source__c":"C0020497","Xref__c":"C84645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007244","Source__c":"GARD:0001051","Xref__c":"MONDO:0007244"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal irregularity of cortical bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005731","HPO_Name__c":"Cortical irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickening of the periosteum of long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006465","HPO_Name__c":"Periosteal thickening of long tubular bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the cortex of the diaphyseal region of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005791","HPO_Name__c":"Cortical thickening of long bone diaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100963","HPO_Synonym__c":"Hyperaesthesia","HPO_Name__c":"Hyperesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive growth of the calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004490","HPO_Synonym__c":"Hyperostosis of calvarial bones; Increased ossification of calvarial bones; Overgrowth of skullcap","HPO_Name__c":"Calvarial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["caffey disease"," caffey syndrome"," caffey's disease"," cortical congenital hyperostosis"," familial infantile cortical hyperostosis"," hyperostosis, cortical, congenital"," p1pk blood group system, p(2) phenotype"],"spanishId":12422,"spanishName":"enfermedad-de-caffey"}