{"Name":"Frontonasal dysplasia","DiseaseID__c":"GARD:0002392","id":2392,"encodedName":"frontonasal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Frontonasal dysplasia","Xref_IDs__c":"86610004; C1876203; C538065; DOID:0081044; MEDGEN:406292; MONDO:0016643; OMIMPS:136760; ORPHA:250","USA_Estimate__c":"5,000","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":"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016643","Disease_Description__c":"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.","GARD_Name__c":"Frontonasal dysplasia","GARD_Synonym__c":"fnd; frontonasal dysplasia sequence; median cleft face syndrome; median facial cleft syndrome","Curated_Disease_Description_Source__c":"GARD:0002392","Curated_Disease_Description__c":"Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widows peak hairline. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.","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:250","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016643","ORPHANET_ID__c":"ORPHA:250","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia frontonasal","Spanish_Description_Source__c":"ORPHA:250","Spanish_Description__c":"Es un grupo de trastornos del desarrollo óseo poco frecuentes caracterizados por un conjunto de anomalías que afectan a los ojos, la frente y la nariz, asociadas a disrafia mediofacial. El cuadro clínico es muy variable, aunque los principales hallazgos incluyen hipertelorismo, raíz nasal ancha, punta nasal amplia y bífida, y pico de viuda. Ocasionalmente, las anomalías pueden incluir apéndices nasales accesorios, labio leporino, afecciones oculares (tales como coloboma, cataratas y microftalmia), pérdida auditiva conductiva, encefalocele basal y/o agenesia del cuerpo calloso. La discapacidad intelectual es poco frecuente, siendo más probable en aquellos casos en los que el hipertelorismo es grave o en los que hay afectación extra-craneal.","Spanish_Disease_Name__c":"displasia frontonasal","Spanish_GARD_Synonym__c":"síndrome de la fisura media","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":"Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widows peak hairline. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.","Curated_Disease_Description_Source__c":"GARD:0002392","GARD_Synonym__c":"fnd; frontonasal dysplasia sequence; median cleft face syndrome; median facial cleft syndrome","Name":"Frontonasal dysplasia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:250"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:250"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1876203"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS136760","Source__c":"MONDO:0016643","Xref__c":"OMIMPS:136760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=406292","Source__c":"C1876203","Xref__c":"MEDGEN:406292"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081044","Source__c":"MONDO:0016643","Xref__c":"DOID:0081044"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86610004","Source__c":"C1876203; MONDO:0016643","Xref__c":"86610004"},{"URL__c":"https://www.orpha.net/en/disease/detail/250","Source__c":"C1876203; MONDO:0016643; ORPHA:250","Xref__c":"ORPHA:250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1876203","Source__c":"C1876203","Xref__c":"C1876203"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538065","Source__c":"MONDO:0016643","Xref__c":"C538065"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016643","Source__c":"GARD:0002392","Xref__c":"MONDO:0016643"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["fnd"," frontonasal dysplasia sequence"," median cleft face syndrome"," median facial cleft syndrome"]}