{"Name":"Choanal atresia with radial ray hypoplasia","DiseaseID__c":"GARD:0004627","id":4627,"encodedName":"choanal-atresia-with-radial-ray-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Choanal atresia with radial ray hypoplasia","Xref_IDs__c":"232373003; C2931464; MEDGEN:419083; MONDO:0008358; OMIM:179270; ORPHA:3026","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008358","Disease_Description__c":"An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.","GARD_Name__c":"Choanal atresia with radial ray hypoplasia","GARD_Synonym__c":"goldblatt viljoen syndrome; goldblatt-viljoen syndrome; radial ray hypoplasia and choanal atresia; radial ray hypoplasia choanal atresia; radial ray hypoplasia-choanal atresia syndrome","Curated_Disease_Description_Source__c":"MONDO:0008358","Curated_Disease_Description__c":"A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3026","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008358","ORPHANET_ID__c":"ORPHA:3026","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia del eje radial-atresia de coanas","Spanish_Description_Source__c":"ORPHA:3026","Spanish_Description__c":"Es un síndrome extremadamente poco frecuente caracterizado por hipoplasia del eje radial, atresia de coanas y estrabismo convergente.","Spanish_Disease_Name__c":"síndrome de hipoplasia del eje radial-atresia de coanas","Spanish_GARD_Synonym__c":"síndrome de goldblatt-viljoen","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 nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.","Curated_Disease_Description_Source__c":"MONDO:0008358","GARD_Synonym__c":"goldblatt viljoen syndrome; goldblatt-viljoen syndrome; radial ray hypoplasia and choanal atresia; radial ray hypoplasia choanal atresia; radial ray hypoplasia-choanal atresia syndrome","Name":"Choanal atresia with radial ray hypoplasia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3026"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3026"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931464","Source__c":"C2931464","Xref__c":"C2931464"},{"URL__c":"https://www.omim.org/entry/179270","Source__c":"C2931464; MONDO:0008358; ORPHA:3026","Xref__c":"OMIM:179270"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232373003","Source__c":"C2931464; MONDO:0008358","Xref__c":"232373003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419083","Source__c":"C2931464","Xref__c":"MEDGEN:419083"},{"URL__c":"https://www.orpha.net/en/disease/detail/3026","Source__c":"C2931464; MONDO:0008358; ORPHA:3026","Xref__c":"ORPHA:3026"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008358","Source__c":"GARD:0004627","Xref__c":"MONDO:0008358"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:179270","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":"OMIM:179270","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:179270","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":"OMIM:179270","Feature__r":{"HPO_Description__c":"Insertion of thumb at a more distal location than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009622","HPO_Name__c":"Distally placed thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:179270","Feature__r":{"HPO_Description__c":"Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001245","HPO_Synonym__c":"Decreased thenar eminence; Hypoplastic thenar eminences; Thenar hypoplasia; Thenar muscle hypoplasia","HPO_Name__c":"Small thenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:179270","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the choana (the posterior nasal aperture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000452","HPO_Synonym__c":"Coanal stenosis; Narrowing of the rear opening of the nasal cavity","HPO_Name__c":"Choanal stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:179270","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:179270","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["goldblatt viljoen syndrome"," goldblatt-viljoen syndrome"," radial ray hypoplasia and choanal atresia"," radial ray hypoplasia choanal atresia"," radial ray hypoplasia-choanal atresia syndrome"]}