{"Name":"Chromosome 8-derived supernumerary ring/marker","DiseaseID__c":"GARD:0001347","id":1347,"encodedName":"chromosome-8-derived-supernumerary-ringmarker","IsDeleted":false,"Disease_Name_Full__c":"Chromosome 8-derived supernumerary ring/marker","Xref_IDs__c":"715983001; C121988; C175705; C4274902; C537824; MEDGEN:895673; MONDO:0015443; ORPHA:1450","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015443","Disease_Description__c":"A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.","GARD_Name__c":"Chromosome 8-derived supernumerary ring/marker","GARD_Synonym__c":"chromosome 8 derived supernumerary ring; r(8) syndrome; ring 8; ring chromosome 8; ring chromosome 8 syndrome; rose cluster 8; supernumerary ring/marker 8","Curated_Disease_Description_Source__c":"ORPHA:1450","Curated_Disease_Description__c":"Ring chromosome 8 syndrome is a genetic disorder that is present from birth (congenital). This condition is caused by a change in the formation of chromosome 8. The symptoms are variable depending on which part of chromosome 8 are affected. Some people have very mild symptoms. When present, the symptoms usually begin in newborns. This can include differences in the tube that carries urine from the kidneys to the bladder, as well as a swelling of the kidneys due to a backup of urine. This condition can also cause differences in facial features, particularly in the forehead and hairline, eyes, nose, and ears. This condition can cause the roof of the mouth to have an irregular shape. People with this condition may have intellectual disabilities. This condition can cause excessive amniotic fluid during pregnancy. People with this condition may have abnormal bending or angling of their fingers.","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:1450","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015443","ORPHANET_ID__c":"ORPHA:1450","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cromosoma 8 en anillo","Spanish_Description_Source__c":"ORPHA:1450","Spanish_Description__c":"Es una anomalía cromosómica poco frecuente que comprende partes variables del cromosoma 8. El fenotipo del r(8)/mar(8) supernumerario en mosaico o no mosaico oscila desde un fenotipo casi normal a grados variables de anomalías menores y retraso mental y del crecimiento que solapa con el bien conocido síndrome de trisomía 8 en mosaico.","Spanish_Disease_Name__c":"síndrome del cromosoma 8 en anillo","Spanish_GARD_Synonym__c":"anillo 8; cromosoma 8 en anillo; síndrome r(8)","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":"Ring chromosome 8 syndrome is a genetic disorder that is present from birth (congenital). This condition is caused by a change in the formation of chromosome 8. The symptoms are variable depending on which part of chromosome 8 are affected. Some people have very mild symptoms. When present, the symptoms usually begin in newborns. This can include differences in the tube that carries urine from the kidneys to the bladder, as well as a swelling of the kidneys due to a backup of urine. This condition can also cause differences in facial features, particularly in the forehead and hairline, eyes, nose, and ears. This condition can cause the roof of the mouth to have an irregular shape. People with this condition may have intellectual disabilities. This condition can cause excessive amniotic fluid during pregnancy. People with this condition may have abnormal bending or angling of their fingers.","Curated_Disease_Description_Source__c":"ORPHA:1450","GARD_Synonym__c":"chromosome 8 derived supernumerary ring; r(8) syndrome; ring 8; ring chromosome 8; ring chromosome 8 syndrome; rose cluster 8; supernumerary ring/marker 8","Name":"Chromosome 8-derived supernumerary ring/marker","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1450"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1450"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:CN036129"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121988","Source__c":"MONDO:0015443","Xref__c":"C121988"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715983001","Source__c":"C4274902; MONDO:0015443","Xref__c":"715983001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895673","Source__c":"C4274902","Xref__c":"MEDGEN:895673"},{"URL__c":"https://www.orpha.net/en/disease/detail/1450","Source__c":"C4274902; MONDO:0015443; ORPHA:1450","Xref__c":"ORPHA:1450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274902","Source__c":"C4274902","Xref__c":"C4274902"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537824","Source__c":"MONDO:0015443","Xref__c":"C537824"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C175705","Source__c":"C4274902","Xref__c":"C175705"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015443","Source__c":"GARD:0001347","Xref__c":"MONDO:0015443"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100830","HPO_Synonym__c":"Round ear","HPO_Name__c":"Round ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","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:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004097","HPO_Synonym__c":"Atypical position of finger; Deviated fingers; Finger pointing in a different direction than usual","HPO_Name__c":"Deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","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:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["chromosome 8 derived supernumerary ring"," r(8) syndrome"," ring 8"," ring chromosome 8"," ring chromosome 8 syndrome"," rose cluster 8"," supernumerary ring/marker 8"]}