{"Name":"Gnathodiaphyseal dysplasia","DiseaseID__c":"GARD:0008698","id":8698,"encodedName":"gnathodiaphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Gnathodiaphyseal dysplasia","Xref_IDs__c":"715568002; C1833736; C536039; DOID:0111533; MEDGEN:331575; MONDO:0008151; OMIM:166260; ORPHA:53697","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008151","Disease_Description__c":"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.","GARD_Name__c":"Gnathodiaphyseal dysplasia","GARD_Synonym__c":"gdd; gnathodiaphyseal dysplasia syndrome; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions","Curated_Disease_Description_Source__c":"MONDO:0008151","Curated_Disease_Description__c":"Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder. Jaw problems are common in gnathodiaphyseal dysplasia; the prefix 'gnatho-' in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life. When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:53697","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008151","ORPHANET_ID__c":"ORPHA:53697","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia gnatodiafisaria","Spanish_Description_Source__c":"ORPHA:53697","Spanish_Description__c":"Es una displasia ósea caracterizada por fragilidad ósea, frecuentes fracturas óseas a una edad temprana, lesiones cemento-óseas en los huesos de la mandíbula, arqueamiento de los huesos tubulares (tibia y peroné) y esclerosis diafisaria de los huesos largos, asociada a osteopenia generalizada. La enfermedad sigue un patrón de transmisión autosómico dominante.","Spanish_Disease_Name__c":"displasia gnatodiafisaria","Spanish_GARD_Synonym__c":"gdd","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":"Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder. Jaw problems are common in gnathodiaphyseal dysplasia; the prefix 'gnatho-' in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life. When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.","Curated_Disease_Description_Source__c":"MONDO:0008151","GARD_Synonym__c":"gdd; gnathodiaphyseal dysplasia syndrome; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions","Name":"Gnathodiaphyseal dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.org/"},{"Account_Name__c":"Children's Brittle Bone Foundation","Website__c":"https://www.cbbf.org/"},{"Account_Name__c":"The Brittle Bone Society","Website__c":"https://brittlebone.org/"}],"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":"Adolescent","Provided_By__c":"ORPHA:53697"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:53697"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:53697"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833736"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008698","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331575","Source__c":"C1833736","Xref__c":"MEDGEN:331575"},{"URL__c":"https://www.orpha.net/en/disease/detail/53697","Source__c":"C1833736; MONDO:0008151; ORPHA:53697","Xref__c":"ORPHA:53697"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715568002","Source__c":"C1833736; MONDO:0008151","Xref__c":"715568002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111533","Source__c":"MONDO:0008151","Xref__c":"DOID:0111533"},{"URL__c":"https://www.omim.org/entry/166260","Source__c":"C1833736; MONDO:0008151; ORPHA:53697","Xref__c":"OMIM:166260"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833736","Source__c":"C1833736","Xref__c":"C1833736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536039","Source__c":"MONDO:0008151","Xref__c":"C536039"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008151","Source__c":"GARD:0008698","Xref__c":"MONDO:0008151"},{"URL__c":"https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia","Source__c":"GARD:0008698","Xref__c":"https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANO5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ano5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:53697","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53697","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the cortex of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000935","HPO_Synonym__c":"Broad cortex of long bones; Cortical thickening of the long bones; Thickened cortices of long bones","HPO_Name__c":"Thickened cortex of long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53697","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomyelitis of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007626","HPO_Synonym__c":"Lower jaw bone infection; Osteomyelitis, especially of the mandible","HPO_Name__c":"Mandibular osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53697","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53697","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012802","HPO_Synonym__c":"Broad jaw; Broad lower face; Broad mandible; Wide jaw; Wide mandible","HPO_Name__c":"Broad jaw","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53697","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:53697","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["gdd"," gnathodiaphyseal dysplasia syndrome"," gnathodiaphyseal sclerosis"," osteogenesis imperfecta with unusual skeletal lesions"]}