{"Name":"Trigonocephaly-bifid nose-acral anomalies syndrome","DiseaseID__c":"GARD:0005126","id":5126,"encodedName":"trigonocephaly-bifid-nose-acral-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trigonocephaly-bifid nose-acral anomalies syndrome","Xref_IDs__c":"C1848743; C564759; MEDGEN:341296; MONDO:0010154; OMIM:275595; ORPHA:3368","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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010154","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.","GARD_Name__c":"Trigonocephaly-bifid nose-acral anomalies syndrome","GARD_Synonym__c":"trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Trigonocephaly-bifid nose-acral anomalies syndrome is a rare condition that a person is born with. It causes problems with the shape of the head and face. This includes a narrow forehead, upward-slanting eyes, a nose that is wide and has a slightly split tip, a wide mouth with a thin upper lip, and a small jaw. People with this condition also have differences in the features on their hands and feet, such as broad thumbs, large toes, and bulbous fingertips with short nails. They may also have loose joints in their hands and a curved pinky finger. People with this condition are often shorter than average and may have weak muscles and trouble with movement and learning.","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:3368","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010154","ORPHANET_ID__c":"ORPHA:3368","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trigonocefalia-nariz bífida-anomalías acrales","Spanish_Description_Source__c":"ORPHA:3368","Spanish_Description__c":"Es un síndrome dismórfico por múltiples anomalías congénitas, poco frecuente, caracterizado por trigono-braquicefalia, dismorfia facial (incluyendo frente estrecha, fisuras palpebrales inclinadas hacia arriba, nariz bulbosa con punta nasal ligeramente bífida, macrostomía con labio superior fino, micrognatia) y diversas anomalías en partes distales de extremidades (zonas acras), tales como pulgares anchos, dedos de los pies grandes, yemas de los dedos bulbosas con uñas cortas, laxitud articular de las manos y clinodactilia del quinto dedo de la mano. También se ha asociado talla baja, hipotonía y grave retraso psicomotor. No ha habido más casos descritos en la literatura desde 1991.","Spanish_Disease_Name__c":"síndrome de trigonocefalia-nariz bífida-anomalías acrales","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":"Trigonocephaly-bifid nose-acral anomalies syndrome is a rare condition that a person is born with. It causes problems with the shape of the head and face. This includes a narrow forehead, upward-slanting eyes, a nose that is wide and has a slightly split tip, a wide mouth with a thin upper lip, and a small jaw. People with this condition also have differences in the features on their hands and feet, such as broad thumbs, large toes, and bulbous fingertips with short nails. They may also have loose joints in their hands and a curved pinky finger. People with this condition are often shorter than average and may have weak muscles and trouble with movement and learning.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet","Name":"Trigonocephaly-bifid nose-acral 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3368"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3368"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848743","Source__c":"C1848743","Xref__c":"C1848743"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564759","Source__c":"MONDO:0010154","Xref__c":"C564759"},{"URL__c":"https://www.omim.org/entry/275595","Source__c":"C1848743; MONDO:0010154; ORPHA:3368","Xref__c":"OMIM:275595"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341296","Source__c":"C1848743","Xref__c":"MEDGEN:341296"},{"URL__c":"https://www.orpha.net/en/disease/detail/3368","Source__c":"C1848743; MONDO:0010154","Xref__c":"ORPHA:3368"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010154","Source__c":"GARD:0005126","Xref__c":"MONDO:0010154"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet"]}