{"Name":"Ulnar hypoplasia-split foot syndrome","DiseaseID__c":"GARD:0005400","id":5400,"encodedName":"ulnar-hypoplasia-split-foot-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ulnar hypoplasia-split foot syndrome","Xref_IDs__c":"C1839123; C536936; MEDGEN:333256; MONDO:0010750; OMIM:314360; ORPHA:1122","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":1,"Description_Source__c":"MONDO:0010750","Disease_Description__c":"Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.","GARD_Name__c":"Ulnar hypoplasia-split foot syndrome","GARD_Synonym__c":"complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet; familial ulnar aplasia and lobster claw syndrome; severe ulnar aplasia and lobster claw feet; ulnar hypoplasia with lobster-claw deformity of feet; ulnar hypoplasia-lobster-claw deformity of feet syndrome; van de berghe dequeker syndrome; van den berghe-dequecker syndrome","Curated_Disease_Description_Source__c":"MONDO:0010750","Curated_Disease_Description__c":"Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1122","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010750","ORPHANET_ID__c":"ORPHA:1122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia cubital-pies hendidos","Spanish_Description_Source__c":"ORPHA:1122","Spanish_Description__c":"Es una disostosis poco frecuente con reducción combinada de las extremidades superiores e inferiores caracterizada por hipoplasia cubital grave, ausencia de los dedos dos a cinco de la mano y pie partido. Afecta fundamentalmente tanto a las manos como a los pies. Los pacientes también pueden presentar un radio ancho e incurvado con engrosamiento cortical. No ha habido más descripciones en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de hipoplasia cubital-pies hendidos","Spanish_GARD_Synonym__c":"hipoplasia cubital-deformidad de los pies en garra de langosta; síndrome de van de berghe-dequeker","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":"Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.","Curated_Disease_Description_Source__c":"MONDO:0010750","GARD_Synonym__c":"complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet; familial ulnar aplasia and lobster claw syndrome; severe ulnar aplasia and lobster claw feet; ulnar hypoplasia with lobster-claw deformity of feet; ulnar hypoplasia-lobster-claw deformity of feet syndrome; van de berghe dequeker syndrome; van den berghe-dequecker syndrome","Name":"Ulnar hypoplasia-split foot 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":"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:1122"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1122","Source__c":"C1839123; MONDO:0010750","Xref__c":"ORPHA:1122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333256","Source__c":"C1839123","Xref__c":"MEDGEN:333256"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536936","Source__c":"MONDO:0010750","Xref__c":"C536936"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839123","Source__c":"C1839123","Xref__c":"C1839123"},{"URL__c":"https://www.omim.org/entry/314360","Source__c":"C1839123; MONDO:0010750; ORPHA:1122","Xref__c":"OMIM:314360"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010750","Source__c":"GARD:0005400","Xref__c":"MONDO:0010750"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1122","HPO_Frequency__c":"Very frequent (80-99%)","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:1122","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":"ORPHA:1122","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet"," familial ulnar aplasia and lobster claw syndrome"," severe ulnar aplasia and lobster claw feet"," ulnar hypoplasia with lobster-claw deformity of feet"," ulnar hypoplasia-lobster-claw deformity of feet syndrome"," van de berghe dequeker syndrome"," van den berghe-dequecker syndrome"]}