{"Name":"Femur-fibula-ulna complex","DiseaseID__c":"GARD:0002286","id":2286,"encodedName":"femur-fibula-ulna-complex","IsDeleted":false,"Disease_Name_Full__c":"Femur-fibula-ulna complex","Xref_IDs__c":"C1856790; C537918; MEDGEN:347305; MONDO:0009221; OMIM:228200; ORPHA:2019","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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:0009221","Disease_Description__c":"A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.","GARD_Name__c":"Femur-fibula-ulna complex","GARD_Synonym__c":"femur fibula ulna complex; femur-fibula-ulna dysostosis; femur-fibula-ulna syndrome; ffu (femur, fibula, ulna) complex; ffu complex; ffu syndrome; pffd","Curated_Disease_Description_Source__c":"MONDO:0009221","Curated_Disease_Description__c":"A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2019","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009221","ORPHANET_ID__c":"ORPHA:2019","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo fémur-peroné-cúbito","Spanish_Description_Source__c":"ORPHA:2019","Spanish_Description__c":"Es un síndrome poco frecuente de malformación congénita de las extremidades caracterizado por una combinación altamente variable de anomalías congénitas del fémur, del peroné y/o del cúbito, que pueden aparecer junto con anomalías de los dedos de las manos o de los pies en el lado cubital/fibular. Los defectos de las extremidades son asimétricos, afectando más a menudo a las extremidades superiores que a las inferiores, y con mayor frecuencia al lado derecho del cuerpo que al izquierdo. Las anomalías del miembro superior incluyen amelia, hipoplasia del húmero, sinostosis húmero-radial y malformación del cúbito y de los radios cubitales. Las anomalías del miembro inferior incluyen la ausencia de la parte proximal del fémur y la ausencia del peroné. El esqueleto axial, los órganos internos y la capacidad intelectual suelen ser normales.","Spanish_Disease_Name__c":"complejo fémur-peroné-cúbito","Spanish_GARD_Synonym__c":"complejo ffu; complejo fémur-fíbula-ulna; disostosis fémur-peroné-cúbito; síndrome fémur-fíbula-ulna; síndrome fémur-peroné-cúbito","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 congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.","Curated_Disease_Description_Source__c":"MONDO:0009221","GARD_Synonym__c":"femur fibula ulna complex; femur-fibula-ulna dysostosis; femur-fibula-ulna syndrome; ffu (femur, fibula, ulna) complex; ffu complex; ffu syndrome; pffd","Name":"Femur-fibula-ulna complex","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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:2019"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2019"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856790","Source__c":"C1856790","Xref__c":"C1856790"},{"URL__c":"https://www.orpha.net/en/disease/detail/2019","Source__c":"C1856790; MONDO:0009221; ORPHA:2019","Xref__c":"ORPHA:2019"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347305","Source__c":"C1856790","Xref__c":"MEDGEN:347305"},{"URL__c":"https://www.omim.org/entry/228200","Source__c":"C1856790; MONDO:0009221; ORPHA:2019","Xref__c":"OMIM:228200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537918","Source__c":"MONDO:0009221","Xref__c":"C537918"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230098009","Source__c":"C1856790","Xref__c":"1230098009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009221","Source__c":"GARD:0002286","Xref__c":"MONDO:0009221"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Amelia of one or both upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009812","HPO_Name__c":"Amelia involving the upper limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","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:2019","HPO_Frequency__c":"Very frequent (80-99%)","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:2019","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difference in length or size between the right and left arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100560","HPO_Synonym__c":"Unequal size of arms","HPO_Name__c":"Upper limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","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:2019","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005792","HPO_Synonym__c":"Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms","HPO_Name__c":"Short humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003041","HPO_Synonym__c":"Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus","HPO_Name__c":"Humeroradial synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","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:2019","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2019","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal parts of the limbs are missing leading to a stump formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009828","HPO_Name__c":"Peromelia","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":["femur fibula ulna complex"," femur-fibula-ulna dysostosis"," femur-fibula-ulna syndrome"," ffu (femur, fibula, ulna) complex"," ffu complex"," ffu syndrome"," pffd"]}