{"Name":"Sirenomelia","DiseaseID__c":"GARD:0007652","id":7652,"encodedName":"sirenomelia","IsDeleted":false,"Disease_Name_Full__c":"Sirenomelia","Xref_IDs__c":"67254002; C0037205; C118455; HP:0010497; MEDGEN:52357; MONDO:0017850; ORPHA:3169","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017850","Disease_Description__c":"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.","GARD_Name__c":"Sirenomelia","GARD_Synonym__c":"fused legs and feet; mermaid malformation; mermaid syndrome; sirenomelia sequence; sirenomelus; symmelia; sympodia","Curated_Disease_Description_Source__c":"GARD:0007652","Curated_Disease_Description__c":"Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs, rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:3169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017850","ORPHANET_ID__c":"ORPHA:3169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sirenomelia","Spanish_Description_Source__c":"ORPHA:3169","Spanish_Description__c":"Es una anomalía congénita poco frecuente y letal que podría representar la forma más grave de disgenesia caudal y que se caracteriza por la fusión de las extremidades inferiores (tipo sirena) asociada en todos los casos a graves anomalías genitourinarias y gastrointestinales. Además, existe una amplia variabilidad fenotípica en las anomalías musculoesqueléticas, del sistema nervioso central y cardiopulmonares presentes. Se describen con frecuencia defectos pélvicos, sacros y espinales, defectos de los genitales internos y externos, agenesia renal, ausencia de vejiga y atresia rectal/ anal. La mayoría son casos de mortinatos o fallecimiento perinatal. La sirenomelia puede clasificarse en función de los fenotipos de las malformaciones de las extremidades. Debido a su similitud, se debate la distinción entre la sirenomelia y el síndrome de regresión caudal, la disgenesia caudal familiar y el VACTERL.","Spanish_Disease_Name__c":"sirenomelia","Spanish_GARD_Synonym__c":null,"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":"Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs, rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs.","Curated_Disease_Description_Source__c":"GARD:0007652","GARD_Synonym__c":"fused legs and feet; mermaid malformation; mermaid syndrome; sirenomelia sequence; sirenomelus; symmelia; sympodia","Name":"Sirenomelia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","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:3169"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3169"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0037205"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52357","Source__c":"C0037205","Xref__c":"MEDGEN:52357"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=67254002","Source__c":"MONDO:0017850","Xref__c":"67254002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0037205","Source__c":"C0037205","Xref__c":"C0037205"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118455","Source__c":"C0037205; MONDO:0017850","Xref__c":"C118455"},{"URL__c":"https://www.orpha.net/en/disease/detail/3169","Source__c":"C0037205; MONDO:0017850; ORPHA:3169","Xref__c":"ORPHA:3169"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723973002","Source__c":"C0037205","Xref__c":"723973002"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010497","Source__c":"C0037205","Xref__c":"HP:0010497"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017850","Source__c":"GARD:0007652","Xref__c":"MONDO:0017850"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010305","HPO_Synonym__c":"Absent sacrum; Sacral agenesis","HPO_Name__c":"Absence of the sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect in which the legs are fused together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010497","HPO_Name__c":"Sirenomelia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3169","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:3169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Gastroenterology","Orthopedics","Urologist","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["fused legs and feet"," mermaid malformation"," mermaid syndrome"," sirenomelia sequence"," sirenomelus"," symmelia"," sympodia"]}