{"Name":"Proximal symphalangism","DiseaseID__c":"GARD:0008182","id":8182,"encodedName":"proximal-symphalangism","IsDeleted":false,"Disease_Name_Full__c":"Proximal symphalangism","Xref_IDs__c":"C1861385; C536223; DOID:0050788; HP:0100264; MEDGEN:348856; MONDO:0008511; OMIMPS:185800; ORPHA:3250","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008511","Disease_Description__c":"A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.","GARD_Name__c":"Proximal symphalangism","GARD_Synonym__c":"cushing symphalangism; cushing's symphalangism; hereditary absence of the proximal interphalangeal joints; proximal interphalangeal joint symphalangism cushing type; proximal symphalangism (disease); symphalangism cushing type; symphalangism, cushing type; vessel's syndrome","Curated_Disease_Description_Source__c":"GARD:0008182","Curated_Disease_Description__c":"Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a genetic change in the NOG gene or GDF5 gene.","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:3250","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008511","ORPHANET_ID__c":"ORPHA:3250","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinfalangismo proximal","Spanish_Description_Source__c":"ORPHA:3250","Spanish_Description__c":"Es un trastorno óseo de origen genético poco frecuente caracterizado por anquilosis de las articulaciones interfalángicas proximales y fusión ósea del carpo y el tarso, asociado a hipoacusia conductiva en algunos pacientes.","Spanish_Disease_Name__c":"sinfalangismo proximal","Spanish_GARD_Synonym__c":"sinfalangismo familiar proximal; sinfalangismo tipo cushing","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":"Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a genetic change in the NOG gene or GDF5 gene.","Curated_Disease_Description_Source__c":"GARD:0008182","GARD_Synonym__c":"cushing symphalangism; cushing's symphalangism; hereditary absence of the proximal interphalangeal joints; proximal interphalangeal joint symphalangism cushing type; proximal symphalangism (disease); symphalangism cushing type; symphalangism, cushing type; vessel's syndrome","Name":"Proximal symphalangism","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":"Neonatal","Provided_By__c":"ORPHA:3250"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3250"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861385"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3714899"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008182","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348856","Source__c":"C1861385","Xref__c":"MEDGEN:348856"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050788","Source__c":"MONDO:0008511","Xref__c":"DOID:0050788"},{"URL__c":"https://www.orpha.net/en/disease/detail/3250","Source__c":"C1861385; MONDO:0008511; ORPHA:3250","Xref__c":"ORPHA:3250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861385","Source__c":"C1861385","Xref__c":"C1861385"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536223","Source__c":"MONDO:0008511","Xref__c":"C536223"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS185800","Source__c":"MONDO:0008511","Xref__c":"OMIMPS:185800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162837001","Source__c":"C1861385","Xref__c":"1162837001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008511","Source__c":"GARD:0008182","Xref__c":"MONDO:0008511"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100264","Source__c":"C1861385","Xref__c":"HP:0100264"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NOG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nog","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040019","HPO_Name__c":"Finger clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","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:3250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormal shape or structure of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005916","HPO_Synonym__c":"Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones","HPO_Name__c":"Abnormal metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005880","HPO_Synonym__c":"Fused long bone of hand with innermost finger bone","HPO_Name__c":"Metacarpophalangeal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100264","HPO_Synonym__c":"Cushing's symphalangism","HPO_Name__c":"Proximal symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003070","HPO_Name__c":"Elbow ankylosis","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":["cushing symphalangism"," cushing's symphalangism"," hereditary absence of the proximal interphalangeal joints"," proximal interphalangeal joint symphalangism cushing type"," proximal symphalangism (disease)"," symphalangism cushing type"," symphalangism, cushing type"," vessel's syndrome"]}