{"Name":"Focal facial dermal dysplasia","DiseaseID__c":"GARD:0008416","id":8416,"encodedName":"focal-facial-dermal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Focal facial dermal dysplasia","Xref_IDs__c":"789156003; C2936827; C537068; MEDGEN:445408; MONDO:0018363; OMIMPS:136500; ORPHA:398166","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018363","Disease_Description__c":"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","GARD_Name__c":"Focal facial dermal dysplasia","GARD_Synonym__c":"ffdd; ffdd - focal facial dermal dysplasia","Curated_Disease_Description_Source__c":"MONDO:0018363","Curated_Disease_Description__c":"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","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:398166","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018363","ORPHANET_ID__c":"ORPHA:398166","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia dérmica facial focal","Spanish_Description_Source__c":"ORPHA:398166","Spanish_Description__c":"Las displasias dérmicas faciales focales (FFDD, por sus siglas en inglés) son displasias ectodérmicas poco frecuentes caracterizadas por lesiones bitemporales congénitas (que se asemejan a marcas de fórceps) o lesiones preauriculares similares a cicatrices asociadas con manifestaciones faciales o sistémicas adicionales. Se han descrito 4 tipos de FFDD (FFDD I a IV). Los tipos II y III de FFDD se manifiestan como dismorfia facial variable que incluye distiquiasis (pestañas superiores) o ausencia de pestañas, y cejas laterales ascendentes y adelgazadas con un puente nasal aplanado y el labio superior lleno. Los tipos I y IV de FFDD se asocian excepcionalmente a anomalías extracutáneas.","Spanish_Disease_Name__c":"displasia dérmica facial focal","Spanish_GARD_Synonym__c":"ffdd","Category_Linearization__c":"ORPHA:89826","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":"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","Curated_Disease_Description_Source__c":"MONDO:0018363","GARD_Synonym__c":"ffdd; ffdd - focal facial dermal dysplasia","Name":"Focal facial dermal dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:398166"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:398166"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=445408","Source__c":"C2936827","Xref__c":"MEDGEN:445408"},{"URL__c":"https://www.orpha.net/en/disease/detail/398166","Source__c":"C2936827; MONDO:0018363; ORPHA:398166","Xref__c":"ORPHA:398166"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936827","Source__c":"C2936827","Xref__c":"C2936827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537068","Source__c":"MONDO:0018363","Xref__c":"C537068"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS136500","Source__c":"MONDO:0018363","Xref__c":"OMIMPS:136500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789156003","Source__c":"C2936827","Xref__c":"789156003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018363","Source__c":"GARD:0008416","Xref__c":"MONDO:0018363"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000090303","Source__c":"C2936827","Xref__c":"D000090303"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ffdd"," ffdd - focal facial dermal dysplasia"]}