{"Name":"Macrodactyly of fingers","DiseaseID__c":"GARD:0008529","id":8529,"encodedName":"macrodactyly-of-fingers","IsDeleted":false,"Disease_Name_Full__c":"Macrodactyly of fingers","Xref_IDs__c":"297195000; C0574044; C537720; MEDGEN:107892; MONDO:0017474; ORPHA:295044","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0008529","Disease_Description__c":"Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly (two fingers are fused together) or clinodactyly (a finger, usually the pinky, is curved toward another finger).","GARD_Name__c":"Macrodactyly of fingers","GARD_Synonym__c":"macrodactyly of hand","Curated_Disease_Description_Source__c":"GARD:0008529","Curated_Disease_Description__c":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:295044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017474","ORPHANET_ID__c":"ORPHA:295044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macrodactilia de los dedos de la mano","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macrodactilia de los dedos de la mano","Spanish_GARD_Synonym__c":"macrodactilia de la mano","Category_Linearization__c":"ORPHA:93890","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":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.","Curated_Disease_Description_Source__c":"GARD:0008529","GARD_Synonym__c":"macrodactyly of hand","Name":"Macrodactyly of fingers","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Helping Hands Foundation","Website__c":"https://helpinghandsgroup.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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:295044"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:295044"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/295044","Source__c":"C0574044; MONDO:0017474; ORPHA:295044","Xref__c":"ORPHA:295044"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0574044","Source__c":"C0574044","Xref__c":"C0574044"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537720","Source__c":"MONDO:0017474","Xref__c":"C537720"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107892","Source__c":"C0574044","Xref__c":"MEDGEN:107892"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=297195000","Source__c":"C0574044; MONDO:0017474","Xref__c":"297195000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017474","Source__c":"GARD:0008529","Xref__c":"MONDO:0017474"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive growth or abnormal thickening of bone tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100774","HPO_Synonym__c":"Bone Hypertrophy; Bone overgrowth","HPO_Name__c":"Hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005922","HPO_Synonym__c":"Abnormal shape of hand","HPO_Name__c":"Abnormal hand morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased length of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010493","HPO_Synonym__c":"Elongated long bone of hand; Increased length of metacarpals","HPO_Name__c":"Long metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of Macrodactyly affecting one or several fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100746","HPO_Synonym__c":"Macrodactyly of hands","HPO_Name__c":"Macrodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012185","HPO_Name__c":"Constrictive median neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012186","HPO_Synonym__c":"Cubital tunnel syndrome","HPO_Name__c":"Entrapment neuropathy of the ulnar nerve at elbow","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of new bone on the surface of a bone of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004276","HPO_Name__c":"Exostoses of hand bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["macrodactyly of hand"]}