{"Name":"Split hand-foot malformation 1 with sensorineural hearing loss","DiseaseID__c":"GARD:0016686","id":16686,"encodedName":"split-hand-foot-malformation-1-with-sensorineural-hearing-loss","IsDeleted":false,"Disease_Name_Full__c":"Split hand-foot malformation 1 with sensorineural hearing loss","Xref_IDs__c":"723611008; C1857344; C565647; DOID:0090024; MEDGEN:347431; MONDO:0009080; OMIM:220600; ORPHA:71271","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009080","Disease_Description__c":"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.","GARD_Name__c":"Split hand-foot malformation 1 with sensorineural hearing loss","GARD_Synonym__c":"congenital deafness with split hands and feet; deafness, congenital, with split hands and feet; shfm1d; split hand-split foot-deafness syndrome; split hand-split foot-hearing loss syndrome; split hand, split foot malformation with sensorineural hearing loss syndrome; split-hand/foot malformation 1 with sensorineural hearing loss; split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive","Curated_Disease_Description_Source__c":"ORPHA:71271","Curated_Disease_Description__c":"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.","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:71271","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009080","ORPHANET_ID__c":"ORPHA:71271","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mano hendida-pie hendido-sordera","Spanish_Description_Source__c":"ORPHA:71271","Spanish_Description__c":"El síndrome mano y pie hendidos - sordera es un síndrome genético extremadamente poco frecuente, descrito en pocas familias hasta la fecha, que se caracteriza clínicamente por malformaciones mano hendida / pie hendido (SHFM; consulte este término) y pérdida de audición neurosensorial de leve a moderada, a veces asociada con paladar hendido y déficit intelectual.","Spanish_Disease_Name__c":"síndrome de mano hendida-pie hendido-sordera","Spanish_GARD_Synonym__c":"síndrome de mano hendida-pie hendido-hipoacusia","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":"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.","Curated_Disease_Description_Source__c":"ORPHA:71271","GARD_Synonym__c":"congenital deafness with split hands and feet; deafness, congenital, with split hands and feet; shfm1d; split hand-split foot-deafness syndrome; split hand-split foot-hearing loss syndrome; split hand, split foot malformation with sensorineural hearing loss syndrome; split-hand/foot malformation 1 with sensorineural hearing loss; split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive","Name":"Split hand-foot malformation 1 with sensorineural hearing loss","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":"Infancy","Provided_By__c":"ORPHA:71271"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:71271"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/220600","Source__c":"C1857344; MONDO:0009080; ORPHA:71271","Xref__c":"OMIM:220600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347431","Source__c":"C1857344","Xref__c":"MEDGEN:347431"},{"URL__c":"https://www.orpha.net/en/disease/detail/71271","Source__c":"C1857344; MONDO:0009080; ORPHA:71271","Xref__c":"ORPHA:71271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565647","Source__c":"MONDO:0009080","Xref__c":"C565647"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857344","Source__c":"C1857344","Xref__c":"C1857344"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723611008","Source__c":"C1857344; MONDO:0009080","Xref__c":"723611008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090024","Source__c":"MONDO:0009080","Xref__c":"DOID:0090024"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009080","Source__c":"GARD:0016686","Xref__c":"MONDO:0009080"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DLX5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:220600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220600","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220600","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220600","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":"OMIM:220600","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:220600","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The gradual reduction in girth of the finger from proximal to distal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001182","HPO_Synonym__c":"Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers","HPO_Name__c":"Tapered finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital deafness with split hands and feet"," deafness, congenital, with split hands and feet"," shfm1d"," split hand-split foot-deafness syndrome"," split hand-split foot-hearing loss syndrome"," split hand, split foot malformation with sensorineural hearing loss syndrome"," split-hand/foot malformation 1 with sensorineural hearing loss"," split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive"]}