{"Name":"Absent radius-anogenital anomalies syndrome","DiseaseID__c":"GARD:0004633","id":4633,"encodedName":"absent-radius-anogenital-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Absent radius-anogenital anomalies syndrome","Xref_IDs__c":"C1839410; C535281; MEDGEN:333312; MONDO:0010718; OMIM:312190; ORPHA:3016","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:0010718","Disease_Description__c":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Absent radius-anogenital anomalies syndrome","GARD_Synonym__c":"radial aplasia and anogenital anomalies; radial aplasia, x-linked","Curated_Disease_Description_Source__c":"MONDO:0010718","Curated_Disease_Description__c":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.","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:3016","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010718","ORPHANET_ID__c":"ORPHA:3016","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de radio ausente-anomalías anogenitales","Spanish_Description_Source__c":"ORPHA:3016","Spanish_Description__c":"Es un síndrome con defectos por reducción de las extremidades, genético y poco frecuente, caracterizado por aplasia / hipoplasia radial bilateral que se manifiesta con antebrazos ausentes / cortos en asociación con anomalías anogenitales (p. ej., hipospadias o ano imperforado). Otras características adicionales descritas incluyen hidrocefalia y ausencia de dígitos preaxiales (pulgares). No se han descrito más casos en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de radio ausente-anomalías anogenitales","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":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MONDO:0010718","GARD_Synonym__c":"radial aplasia and anogenital anomalies; radial aplasia, x-linked","Name":"Absent radius-anogenital 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":"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:3016"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3016"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/312190","Source__c":"C1839410; MONDO:0010718; ORPHA:3016","Xref__c":"OMIM:312190"},{"URL__c":"https://www.orpha.net/en/disease/detail/3016","Source__c":"C1839410; MONDO:0010718","Xref__c":"ORPHA:3016"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333312","Source__c":"C1839410","Xref__c":"MEDGEN:333312"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535281","Source__c":"MONDO:0010718","Xref__c":"C535281"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839410","Source__c":"C1839410","Xref__c":"C1839410"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010718","Source__c":"GARD:0004633","Xref__c":"MONDO:0010718"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a fistula between the bowel and the perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004871","HPO_Name__c":"Perineal fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025023","HPO_Synonym__c":"Atresia of the rectum","HPO_Name__c":"Rectal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a fistula between the vagina and the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000143","HPO_Synonym__c":"Abnormal connection between rectum and vagina","HPO_Name__c":"Rectovaginal fistula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3016","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["radial aplasia and anogenital anomalies"," radial aplasia, x-linked"]}