{"Name":"Split-foot malformation-mesoaxial polydactyly syndrome","DiseaseID__c":"GARD:0017889","id":17889,"encodedName":"split-foot-malformation-mesoaxial-polydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Split-foot malformation-mesoaxial polydactyly syndrome","Xref_IDs__c":"C5567487; MEDGEN:1798910; MONDO:0014816; OMIM:616890; ORPHA:488232","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:488232","Disease_Description__c":"A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.","GARD_Name__c":"Split-foot malformation-mesoaxial polydactyly syndrome","GARD_Synonym__c":"sfmmp; sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome; split-foot malformation with mesoaxial polydactyly; split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; split-foot malformation, mesoaxial polydactyly syndrome; split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome","Curated_Disease_Description_Source__c":"ORPHA:488232","Curated_Disease_Description__c":"A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:488232","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014816","ORPHANET_ID__c":"ORPHA:488232","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de malformación de pie hendido-polidactilia mesoaxial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de malformación de pie hendido-polidactilia mesoaxial","Spanish_GARD_Synonym__c":"sfmmp; síndrome de malformación de pie hendido-polidactilia mesoaxial-anomalías de las uñas-hipoacusia neurosensorial","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 genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.","Curated_Disease_Description_Source__c":"ORPHA:488232","GARD_Synonym__c":"sfmmp; sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome; split-foot malformation with mesoaxial polydactyly; split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; split-foot malformation, mesoaxial polydactyly syndrome; split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome","Name":"Split-foot malformation-mesoaxial polydactyly 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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Neonatal","Provided_By__c":"ORPHA:488232"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616890","Source__c":"C5567487; MONDO:0014816; ORPHA:488232","Xref__c":"OMIM:616890"},{"URL__c":"https://www.orpha.net/en/disease/detail/488232","Source__c":"C5567487; MONDO:0014816; ORPHA:488232","Xref__c":"ORPHA:488232"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567487","Source__c":"C5567487","Xref__c":"C5567487"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798910","Source__c":"C5567487","Xref__c":"MEDGEN:1798910"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172635005","Source__c":"C5567487","Xref__c":"1172635005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014816","Source__c":"GARD:0017889","Xref__c":"MONDO:0014816"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAP3K20","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010383","HPO_Synonym__c":"Absent/small little toe bones; Absent/small pinkie toe bones; Absent/small pinky toe bones; Absent/underdeveloped pinky toe bones","HPO_Name__c":"Aplasia/Hypoplasia of the phalanges of the 5th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010371","HPO_Synonym__c":"Absent/small bones of 4th toe; Absent/underdeveloped bones of 4th toe","HPO_Name__c":"Aplasia/Hypoplasia of the phalanges of the 4th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital fusion of the second metatarsal bone with the proximal phalanx of the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100483","HPO_Synonym__c":"Fused innermost bone of 2nd toe with the 2nd long bone of foot","HPO_Name__c":"Second ray metatarsophalangeal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005767","HPO_Name__c":"1-2 toe complete cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes four and five.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004692","HPO_Synonym__c":"Symmetric syndactyly, toes 4 and 5; Syndactyly of toes 4 and 5; Webbed 4th-5th toes","HPO_Name__c":"4-5 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010359","HPO_Synonym__c":"Absent/small bones of 3rd toe; Absent/underdeveloped bones of 3rd toe","HPO_Name__c":"Aplasia/Hypoplasia of the phalanges of the 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","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:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010112","HPO_Synonym__c":"Central polydactyly of feet","HPO_Name__c":"Mesoaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010413","HPO_Synonym__c":"Absent/small outermost 2nd toe bone; Absent/underdeveloped outermost 2nd toe bone","HPO_Name__c":"Aplasia/Hypoplasia of the distal phalanx of the 2nd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects both ears.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008619","HPO_Synonym__c":"Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral","HPO_Name__c":"Bilateral sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010076","HPO_Synonym__c":"Absent/small outermost big toe bone; Absent/underdeveloped outermost big toe bone","HPO_Name__c":"Aplasia/Hypoplasia of the distal phalanx of the hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes one and two.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010711","HPO_Synonym__c":"Webbed 1st-2nd toes; Webbed first and second toes","HPO_Name__c":"1-2 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Dermatology","Congenital limb malformation"]},"synonyms":["sfmmp"," sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome"," split-foot malformation with mesoaxial polydactyly"," split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"," split-foot malformation, mesoaxial polydactyly syndrome"," split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome"]}