{"Name":"Multiple synostosis syndrome","DiseaseID__c":"GARD:0003836","id":3836,"encodedName":"multiple-synostosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Multiple synostosis syndrome","Xref_IDs__c":"62628008; C0175700; DOID:0050794; MEDGEN:511579; MONDO:0017923; OMIMPS:186500; ORPHA:3237","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017923","Disease_Description__c":"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","GARD_Name__c":"Multiple synostosis syndrome","GARD_Synonym__c":"deafness-hermann type symphalangism syndrome; facio-audio-symphalangism; hearing loss-hermann type symphalangism syndrome; multiple synostoses syndrome; symphalangism syndrome; wl syndrome","Curated_Disease_Description_Source__c":"MONDO:0017923","Curated_Disease_Description__c":"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3237","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017923","ORPHANET_ID__c":"ORPHA:3237","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sinostosis múltiple","Spanish_Description_Source__c":"ORPHA:3237","Spanish_Description__c":"El síndrome de sinostosis múltiple (MSS) es un trastorno óseo del desarrollo poco frecuente caracterizado por sinfalangismo proximal de los dedos de las manos y/o de los pies, a menudo asociado con la fusión de las articulaciones de la columna cervical , carpo-tarsal y humeroradial.","Spanish_Disease_Name__c":"síndrome de sinostosis múltiple","Spanish_GARD_Synonym__c":"facio-audio-sinfalangismo; sinfalangismo-braquidactilia; síndrome de hipoacusia-sinfalangismo tipo hermann; síndrome de sordera-sinfalangismo tipo hermann; síndrome de wl; síndrome wl","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":"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","Curated_Disease_Description_Source__c":"MONDO:0017923","GARD_Synonym__c":"deafness-hermann type symphalangism syndrome; facio-audio-symphalangism; hearing loss-hermann type symphalangism syndrome; multiple synostoses syndrome; symphalangism syndrome; wl syndrome","Name":"Multiple synostosis 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":"Otolaryngology","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":"Childhood","Provided_By__c":"ORPHA:3237"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342282"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003836","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=511579","Source__c":"C0175700","Xref__c":"MEDGEN:511579"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175700","Source__c":"C0175700","Xref__c":"C0175700"},{"URL__c":"https://www.orpha.net/en/disease/detail/3237","Source__c":"C0175700; MONDO:0017923; ORPHA:3237","Xref__c":"ORPHA:3237"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050794","Source__c":"MONDO:0017923","Xref__c":"DOID:0050794"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS186500","Source__c":"MONDO:0017923","Xref__c":"OMIMPS:186500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017923","Source__c":"GARD:0003836","Xref__c":"MONDO:0017923"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62628008","Source__c":"C0175700","Xref__c":"62628008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGF9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NOG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nog","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GDF6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gdf6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Very frequent (80-99%)","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:3237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["deafness-hermann type symphalangism syndrome"," facio-audio-symphalangism"," hearing loss-hermann type symphalangism syndrome"," multiple synostoses syndrome"," symphalangism syndrome"," wl syndrome"]}