{"Name":"Fibulo-ulnar hypoplasia-renal anomalies syndrome","DiseaseID__c":"GARD:0000320","id":320,"encodedName":"fibulo-ulnar-hypoplasia-renal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fibulo-ulnar hypoplasia-renal anomalies syndrome","Xref_IDs__c":"716094008; C1856727; C537226; MEDGEN:383972; MONDO:0009233; OMIM:228940; ORPHA:2256","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009233","Disease_Description__c":"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.","GARD_Name__c":"Fibulo-ulnar hypoplasia-renal anomalies syndrome","GARD_Synonym__c":"fibulo-ulnar hypoplasia and renal anomalies syndrome; fibuloulnar aplasia or hypoplasia with renal abnormalities; fibuloulnar hypoplasia with renal abnormalities; saito kuba tsuruta syndrome; saito-kuba-tsuruta syndrome","Curated_Disease_Description_Source__c":"MONDO:0009233","Curated_Disease_Description__c":"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.","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:2256","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009233","ORPHANET_ID__c":"ORPHA:2256","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia de peroné y cúbito-anomalías renales","Spanish_Description_Source__c":"ORPHA:2256","Spanish_Description__c":"Es un síndrome caracterizado por disostosis cubital del peroné con anomalías renales. Se ha descrito en dos hermanos nacidos de padres no consanguíneos. El síndrome es letal al nacimiento (insuficiencia respiratoria). Las manifestaciones clínicas incluyen anomalías faciales y del oído (incluyendo micrognatia), acortamiento simétrico de los huesos largos, agenesia del peroné e hipoplasia cubital, oligosindactilia, defectos cardíacos congénitos y riñón quístico o hipoplásico. Se transmite como un rasgo autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de hipoplasia de peroné y cúbito-anomalías renales","Spanish_GARD_Synonym__c":"síndrome de saito-kuba-tsuruta","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":"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.","Curated_Disease_Description_Source__c":"MONDO:0009233","GARD_Synonym__c":"fibulo-ulnar hypoplasia and renal anomalies syndrome; fibuloulnar aplasia or hypoplasia with renal abnormalities; fibuloulnar hypoplasia with renal abnormalities; saito kuba tsuruta syndrome; saito-kuba-tsuruta syndrome","Name":"Fibulo-ulnar hypoplasia-renal anomalies 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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2256"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2256"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537226","Source__c":"MONDO:0009233","Xref__c":"C537226"},{"URL__c":"https://www.orpha.net/en/disease/detail/2256","Source__c":"C1856727; MONDO:0009233; ORPHA:2256","Xref__c":"ORPHA:2256"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383972","Source__c":"C1856727","Xref__c":"MEDGEN:383972"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716094008","Source__c":"C1856727; MONDO:0009233","Xref__c":"716094008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856727","Source__c":"C1856727","Xref__c":"C1856727"},{"URL__c":"https://www.omim.org/entry/228940","Source__c":"C1856727; MONDO:0009233; ORPHA:2256","Xref__c":"OMIM:228940"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009233","Source__c":"GARD:0000320","Xref__c":"MONDO:0009233"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Superior margin of the scrotum superior to the base of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000049","HPO_Synonym__c":"Overriding scrotum; Scrotum surrounds penis","HPO_Name__c":"Shawl scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006492","HPO_Synonym__c":"Absent/small calf bone; Absent/underdeveloped calf bone; Fibular aplasia/hypoplasia; Hypoplastic/aplastic fibulae","HPO_Name__c":"Aplasia/Hypoplasia of the fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","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:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010242","HPO_Synonym__c":"Absent innermost bones; Absent proximal phalanges","HPO_Name__c":"Aplasia of the proximal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001195","HPO_Synonym__c":"2 vessel cord; 2 vessel umbilical cord; Only one artery in umbilical cord instead of two; SUA; Two vessel cord; Two vessel umbilical cord; Two-vessel cord","HPO_Name__c":"Single umbilical artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal; Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100016","HPO_Synonym__c":"Abnormality of mesentery morphology","HPO_Name__c":"Abnormal mesentery morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","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:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["fibulo-ulnar hypoplasia and renal anomalies syndrome"," fibuloulnar aplasia or hypoplasia with renal abnormalities"," fibuloulnar hypoplasia with renal abnormalities"," saito kuba tsuruta syndrome"," saito-kuba-tsuruta syndrome"]}