{"Name":"Symbrachydactyly of hands and feet","DiseaseID__c":"GARD:0001680","id":1680,"encodedName":"symbrachydactyly-of-hands-and-feet","IsDeleted":false,"Disease_Name_Full__c":"Symbrachydactyly of hands and feet","Xref_IDs__c":"C2931719; C538062; MEDGEN:419146; MONDO:0015516; ORPHA:1570","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015516","Disease_Description__c":"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.","GARD_Name__c":"Symbrachydactyly of hands and feet","GARD_Synonym__c":"de smet-fabry-fryns syndrome; frints de smet fabry fryns syndrome; symbrachydactyly of the hand and foot","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Symbrachydactyly of hands and feet is a rare condition that affects the development of the hands and feet. People with this condition have short, stiff, webbed, or missing fingers and/or toes. The fingers and toes may be replaced with small stumps (nubbins) with residual nails. The condition can affect one or both sides of the body. The underlying muscles, tendons, ligaments, and bones are affected, but there are no other associated limb anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1570","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015516","ORPHANET_ID__c":"ORPHA:1570","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Simbraquidactilia de manos y pies","Spanish_Description_Source__c":"ORPHA:1570","Spanish_Description__c":"La simbraquidactilia de manos y pies es un trastorno no-sindrómico poco frecuente de reducción de las extremidades caracterizado por braquidactilia unilateral o bilateral, sindactilia cutánea e hipoplasia global de la mano y/o pie, con afectación de músculos, tendones, ligamentos y huesos subyacentes pero sin otras anomalías de las extremidades asociadas. Por lo general, los afectados presentan dedos de las manos y/o pies cortos, rígidos, palmeados o ausentes que a menudo se reemplazan con pequeños muñones (protuberancias) con uñas residuales.","Spanish_Disease_Name__c":"simbraquidactilia de manos y pies","Spanish_GARD_Synonym__c":"síndrome de de smet-fabry-fryns","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":"Symbrachydactyly of hands and feet is a rare condition that affects the development of the hands and feet. People with this condition have short, stiff, webbed, or missing fingers and/or toes. The fingers and toes may be replaced with small stumps (nubbins) with residual nails. The condition can affect one or both sides of the body. The underlying muscles, tendons, ligaments, and bones are affected, but there are no other associated limb anomalies.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"de smet-fabry-fryns syndrome; frints de smet fabry fryns syndrome; symbrachydactyly of the hand and foot","Name":"Symbrachydactyly of hands and feet","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":"Neonatal","Provided_By__c":"ORPHA:1570"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1570"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419146","Source__c":"C2931719","Xref__c":"MEDGEN:419146"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931719","Source__c":"C2931719","Xref__c":"C2931719"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538062","Source__c":"MONDO:0015516","Xref__c":"C538062"},{"URL__c":"https://www.orpha.net/en/disease/detail/1570","Source__c":"C2931719; MONDO:0015516; ORPHA:1570","Xref__c":"ORPHA:1570"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015516","Source__c":"GARD:0001680","Xref__c":"MONDO:0015516"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1570","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the structure of the humerus (i.e., upper arm bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031095","HPO_Synonym__c":"Abnormality of the humerus","HPO_Name__c":"Abnormal humerus morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1570","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1570","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100745","HPO_Name__c":"Abnormality of the humeroulnar joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1570","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1570","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":"ORPHA:1570","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small or absent thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009601","HPO_Synonym__c":"Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Thumb aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1570","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","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":["de smet-fabry-fryns syndrome"," frints de smet fabry fryns syndrome"," symbrachydactyly of the hand and foot"]}