{"Name":"Mesoaxial synostotic syndactyly with phalangeal reduction","DiseaseID__c":"GARD:0010590","id":10590,"encodedName":"mesoaxial-synostotic-syndactyly-with-phalangeal-reduction","IsDeleted":false,"Disease_Name_Full__c":"Mesoaxial synostotic syndactyly with phalangeal reduction","Xref_IDs__c":"724170007; C1836206; C563721; MEDGEN:324459; MONDO:0012271; OMIM:609432; ORPHA:157801","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:0012271","Disease_Description__c":"A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.","GARD_Name__c":"Mesoaxial synostotic syndactyly with phalangeal reduction","GARD_Synonym__c":"mesoaxial synostotic syndactyly with phalangeal reduction syndrome; mssd; syndactyly malik percin type; syndactyly type 9; syndactyly, malik-percin type","Curated_Disease_Description_Source__c":"MONDO:0012271","Curated_Disease_Description__c":"A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.","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:157801","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012271","ORPHANET_ID__c":"ORPHA:157801","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia mesoaxial sinostótica con reducción de las falanges","Spanish_Description_Source__c":"ORPHA:157801","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por la reducción mesoaxial de los dedos, sindactilia completa del tercer y cuarto dedos de la mano con sinostosis de los metacarpianos correspondientes y falanges únicas asociadas, pulgares malformados e hipoplasia y clinodactilia del quinto dedo. Se ha descrito asociación con membranas preaxiales e hipoplasia de la falange terminal de todos los dedos de los pies.","Spanish_Disease_Name__c":"sindactilia mesoaxial sinostótica con reducción de las falanges","Spanish_GARD_Synonym__c":"mssd; sindactilia tipo 9; sindactilia tipo malik-percin","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 syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.","Curated_Disease_Description_Source__c":"MONDO:0012271","GARD_Synonym__c":"mesoaxial synostotic syndactyly with phalangeal reduction syndrome; mssd; syndactyly malik percin type; syndactyly type 9; syndactyly, malik-percin type","Name":"Mesoaxial synostotic syndactyly with phalangeal reduction","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:157801"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:157801"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836206"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010590","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324459","Source__c":"C1836206","Xref__c":"MEDGEN:324459"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563721","Source__c":"MONDO:0012271","Xref__c":"C563721"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836206","Source__c":"C1836206","Xref__c":"C1836206"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724170007","Source__c":"C1836206; MONDO:0012271","Xref__c":"724170007"},{"URL__c":"https://www.orpha.net/en/disease/detail/157801","Source__c":"C1836206; MONDO:0012271; ORPHA:157801","Xref__c":"ORPHA:157801"},{"URL__c":"https://www.omim.org/entry/609432","Source__c":"C1836206; MONDO:0012271; ORPHA:157801","Xref__c":"OMIM:609432"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012271","Source__c":"GARD:0010590","Xref__c":"MONDO:0012271"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BHLHA9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","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:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:157801","HPO_Frequency__c":"Frequent (30-79%)","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:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008362","HPO_Synonym__c":"Absent/small big toe; Absent/underdeveloped big toe; Aplastic/hypoplastic halluces","HPO_Name__c":"Aplasia/Hypoplasia of the hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","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:157801","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:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010109","HPO_Synonym__c":"Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux","HPO_Name__c":"Short hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009701","HPO_Synonym__c":"Fused long bones of hand; Synostosis involving metacarpal bones; Synostosis involving the metacarpal bones","HPO_Name__c":"Metacarpal 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":["mesoaxial synostotic syndactyly with phalangeal reduction syndrome"," mssd"," syndactyly malik percin type"," syndactyly type 9"," syndactyly, malik-percin type"]}