{"Name":"Arachnodactyly-intellectual disability-dysmorphism syndrome","DiseaseID__c":"GARD:0000764","id":764,"encodedName":"arachnodactyly-intellectual-disability-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arachnodactyly-intellectual disability-dysmorphism syndrome","Xref_IDs__c":"720502000; C4304030; MEDGEN:929699; MONDO:0015235; ORPHA:1130","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015235","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"Arachnodactyly-intellectual disability-dysmorphism syndrome","GARD_Synonym__c":"arachnodactyly and intellectual disability with facial dysmorphism syndrome; de die-smulders-vles-fryns syndrome; de die, smulders, vles, fryns syndrome; die smulders vles fryns syndrome","Curated_Disease_Description_Source__c":"MONDO:0015235","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","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:1130","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015235","ORPHANET_ID__c":"ORPHA:1130","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aracnodactilia-discapacidad intelectual-dismorfia","Spanish_Description_Source__c":"ORPHA:1130","Spanish_Description__c":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por dismorfia facial (braquicefalia, cara alargada, estrecha y triangular, frente prominente, hipertelorismo, filtrum plano, microstomia, labios delgados, hipoplasia maxilar), hábito marfanoide con aracnodactilia y discapacidad intelectual de moderada a grave. Otros hallazgos adicionales pueden incluir clinodactilia, pulgares trifalángicos, dedos de los pies en martillo, articulaciones hiperextensibles, hipotonía, hiperreflexia y escaso desarrollo muscular. En algunos casos se ha descrito un retraso en el desarrollo de los genitales externos, así como convulsiones e insuficiencia mitral. No ha habido más casos descritos en la literatura desde 1995.","Spanish_Disease_Name__c":"síndrome de aracnodactilia-discapacidad intelectual-dismorfia","Spanish_GARD_Synonym__c":"síndrome de de die-smulders-vles-fryns","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 multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0015235","GARD_Synonym__c":"arachnodactyly and intellectual disability with facial dysmorphism syndrome; de die-smulders-vles-fryns syndrome; de die, smulders, vles, fryns syndrome; die smulders vles fryns syndrome","Name":"Arachnodactyly-intellectual disability-dysmorphism 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1130"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1130"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929699","Source__c":"C4304030","Xref__c":"MEDGEN:929699"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304030","Source__c":"C4304030","Xref__c":"C4304030"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720502000","Source__c":"C4304030; MONDO:0015235","Xref__c":"720502000"},{"URL__c":"https://www.orpha.net/en/disease/detail/1130","Source__c":"C4304030; MONDO:0015235; ORPHA:1130","Xref__c":"ORPHA:1130"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015235","Source__c":"GARD:0000764","Xref__c":"MONDO:0015235"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["arachnodactyly and intellectual disability with facial dysmorphism syndrome"," de die-smulders-vles-fryns syndrome"," de die, smulders, vles, fryns syndrome"," die smulders vles fryns syndrome"]}