{"Name":"Sugarman brachydactyly","DiseaseID__c":"GARD:0005058","id":5058,"encodedName":"sugarman-brachydactyly","IsDeleted":false,"Disease_Name_Full__c":"Sugarman brachydactyly","Xref_IDs__c":"1187132007; C5399870; DOID:0110979; MEDGEN:1777636; MONDO:0010087; OMIM:272150; ORPHA:498602","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":0,"World_Estimate__c":"1 to 8,000","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:0010087","Disease_Description__c":"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.","GARD_Name__c":"Sugarman brachydactyly","GARD_Synonym__c":"brachydactyly with major proximal phalangeal shortening; sugarman hager kulik syndrome; sugarman-hager-kulik syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Sugarman brachydactyly is a rare condition that affects the fingers and toes. People with this condition have short fingers and immobile joints in their fingers. Additionally, people may  have toes that are placed differently than usual and do not move in a typical manner. X-rays of the hands have also shown that people with this condition, can have two bones in their thumb and a shorter pinky finger.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:498602","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010087","ORPHANET_ID__c":"ORPHA:498602","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia de sugarman","Spanish_Description_Source__c":"ORPHA:498602","Spanish_Description__c":"Es una malformación congénita de extremidades, genética y poco frecuente, caracterizada por braquidactilia de los dedos de las manos, con acortamiento importante de las falanges proximales y articulaciones interfalángicas proximales inmóviles, además de ausencia de articulación en los dedos gordos de los pies, colocados dorsal y proximalmente (con o sin angulación). Los hallazgos radiográficos de las manos incluyen duplicación bilateral de los 1º metacarpianos y 5º dedos bifalángicos. No se han descrito más casos en la literatura desde 1982.","Spanish_Disease_Name__c":"braquidactilia de sugarman","Spanish_GARD_Synonym__c":"síndrome de sugarman-hager-kulik","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":"Sugarman brachydactyly is a rare condition that affects the fingers and toes. People with this condition have short fingers and immobile joints in their fingers. Additionally, people may  have toes that are placed differently than usual and do not move in a typical manner. X-rays of the hands have also shown that people with this condition, can have two bones in their thumb and a shorter pinky finger.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"brachydactyly with major proximal phalangeal shortening; sugarman hager kulik syndrome; sugarman-hager-kulik syndrome","Name":"Sugarman brachydactyly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:498602"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:498602"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110979","Source__c":"MONDO:0010087","Xref__c":"DOID:0110979"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1777636","Source__c":"C5399870","Xref__c":"MEDGEN:1777636"},{"URL__c":"https://www.orpha.net/en/disease/detail/498602","Source__c":"C5399870; MONDO:0010087; ORPHA:498602","Xref__c":"ORPHA:498602"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5399870","Source__c":"C5399870","Xref__c":"C5399870"},{"URL__c":"https://www.omim.org/entry/272150","Source__c":"C5399870; MONDO:0010087; ORPHA:498602","Xref__c":"OMIM:272150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187132007","Source__c":"C5399870","Xref__c":"1187132007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010087","Source__c":"GARD:0005058","Xref__c":"MONDO:0010087"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:272150","Feature__r":{"HPO_Description__c":"Proximal mislocalization of the big toe from its normal position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011926","HPO_Synonym__c":"Proximal placement of big toe; Proximally placed halluces","HPO_Name__c":"Proximal placement of hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:272150","Feature__r":{"HPO_Description__c":"Congenital hypoplasia of one or more proximal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010241","HPO_Synonym__c":"Hypoplasia of the proximal phalanges of the hand; Short innermost finger bones; Short proximal phalanges; Short proximal phalanx of finger; Shortening in proximal phalanges","HPO_Name__c":"Short proximal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:272150","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":"OMIM:272150","Feature__r":{"HPO_Description__c":"Duplication of the metacarpal I bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005894","HPO_Synonym__c":"Double 1st long bones of hand","HPO_Name__c":"Double first metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:272150","Feature__r":{"HPO_Description__c":"The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006152","HPO_Synonym__c":"Fused innermost hinge joints; Proximal interphalangeal joint synostoses; Proximal symphalangism of hands","HPO_Name__c":"Proximal finger symphalangism","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":["brachydactyly with major proximal phalangeal shortening"," sugarman hager kulik syndrome"," sugarman-hager-kulik syndrome"]}