{"Name":"Osebold-Remondini syndrome","DiseaseID__c":"GARD:0000983","id":983,"encodedName":"osebold-remondini-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Osebold-Remondini syndrome","Xref_IDs__c":"715722003; C1862130; C537092; DOID:0110968; MEDGEN:350598; MONDO:0007219; OMIM:112910; ORPHA:93382","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:0007219","Disease_Description__c":"A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.","GARD_Name__c":"Osebold-Remondini syndrome","GARD_Synonym__c":"bda6; brachydactyly type a6; brachydactyly, type a6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; osebold remondini syndrome","Curated_Disease_Description_Source__c":"MONDO:0007219","Curated_Disease_Description__c":"A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.","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:93382","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007219","ORPHANET_ID__c":"ORPHA:93382","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo a6","Spanish_Description_Source__c":"ORPHA:93382","Spanish_Description__c":"La braquidactilia tipo A6 (BDA6) se caracteriza por una braquimesofalangia con acortamiento mesomélico de las extremidades, y por anomalías de los huesos carpianos y del tarso. En general, los individuos afectados son de estatura ligeramente baja y de inteligencia normal. El síndrome se ha descrito en una familia con siete individuos afectados a lo largo de tres generaciones. La transmisión parece ser autosómica dominante.","Spanish_Disease_Name__c":"braquidactilia tipo a6","Spanish_GARD_Synonym__c":"displasia acromesomélica tipo osebold-remondini; síndrome de osebold-remondini","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 primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.","Curated_Disease_Description_Source__c":"MONDO:0007219","GARD_Synonym__c":"bda6; brachydactyly type a6; brachydactyly, type a6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; osebold remondini syndrome","Name":"Osebold-Remondini syndrome","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:93382"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93382"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862130","Source__c":"C1862130","Xref__c":"C1862130"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350598","Source__c":"C1862130","Xref__c":"MEDGEN:350598"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110968","Source__c":"MONDO:0007219","Xref__c":"DOID:0110968"},{"URL__c":"https://www.omim.org/entry/112910","Source__c":"C1862130; MONDO:0007219; ORPHA:93382","Xref__c":"OMIM:112910"},{"URL__c":"https://www.orpha.net/en/disease/detail/93382","Source__c":"C1862130; MONDO:0007219; ORPHA:93382","Xref__c":"ORPHA:93382"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537092","Source__c":"MONDO:0007219","Xref__c":"C537092"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715722003","Source__c":"C1862130; MONDO:0007219","Xref__c":"715722003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007219","Source__c":"GARD:0000983","Xref__c":"MONDO:0007219"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Increased width of a non-thumb digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001500","HPO_Synonym__c":"Broad finger; Broad fingers; Wide fingers","HPO_Name__c":"Broad finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Underdevelopment (reduced size) of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005736","HPO_Synonym__c":"Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia","HPO_Name__c":"Short tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Abnormally developed (dysplastic) distal epiphysis of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005013","HPO_Name__c":"Dysplastic distal radial epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008127","HPO_Synonym__c":"Delayed coalescence of bipartite calcanei; Delayed coalescence of calcaneal ossification centers; Delayed fusion of bipartite calcanei; Double calcaneal ossification center; Extra calcaneal ossification center","HPO_Name__c":"Bipartite calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009466","HPO_Synonym__c":"Radially deviated fingers; Radially deviated phalanges","HPO_Name__c":"Radial deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009370","HPO_Name__c":"Type A brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006135","HPO_Synonym__c":"Decreased finger mobility; Decreased finger movement","HPO_Name__c":"Decreased finger mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009843","HPO_Synonym__c":"Absent/hypoplastic middle phalanges; Absent/small middle finger bone of the hand; Absent/underdeveloped middle finger bone of the hand; Aplasia/hypoplasia of middle phalanges; Aplastic/hypoplastic middle phalanges; Hypoplastic/aplastic middle phalanx; Short to absent middle phalanges; Short/absent middle phalanges","HPO_Name__c":"Aplasia/Hypoplasia of the middle phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001837","HPO_Synonym__c":"Broad toe; Wide toe","HPO_Name__c":"Broad toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112910","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":"OMIM:112910","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","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":["bda6"," brachydactyly type a6"," brachydactyly, type a6"," brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities"," osebold remondini syndrome"]}