{"Name":"Ichthyosis-oral and digital anomalies syndrome","DiseaseID__c":"GARD:0002960","id":2960,"encodedName":"ichthyosis-oral-and-digital-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis-oral and digital anomalies syndrome","Xref_IDs__c":"C1850268; C536272; MEDGEN:342457; MONDO:0009792; OMIM:258840; ORPHA:2272","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009792","Disease_Description__c":"Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.","GARD_Name__c":"Ichthyosis-oral and digital anomalies syndrome","GARD_Synonym__c":"clayton smith-donnai syndrome; oral and digital anomalies with ichthyosis","Curated_Disease_Description_Source__c":"MONDO:0009792","Curated_Disease_Description__c":"Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.","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:2272","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009792","ORPHANET_ID__c":"ORPHA:2272","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ictiosis-anomalías orales y digitales","Spanish_Description_Source__c":"ORPHA:2272","Spanish_Description__c":"Es un síndrome caracterizado por ictiosis, facies inusual (boca pequeña con labio superior delgado y labio inferior con un surco en la línea media) y anomalías digitales (dedos de la mano ahusados con ausencia de pliegues de flexión distal y amplio espacio entre el segundo y el tercer dedos). Se ha descrito en dos hermanos nacidos de padres con cuarto grado de consanguinidad (primos hermanos). La transmisión parece ser autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de ictiosis-anomalías orales y digitales","Spanish_GARD_Synonym__c":"síndrome de clayton-smith-donnai","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":"Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009792","GARD_Synonym__c":"clayton smith-donnai syndrome; oral and digital anomalies with ichthyosis","Name":"Ichthyosis-oral and digital anomalies syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2272"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2272"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/258840","Source__c":"C1850268; MONDO:0009792; ORPHA:2272","Xref__c":"OMIM:258840"},{"URL__c":"https://www.orpha.net/en/disease/detail/2272","Source__c":"C1850268; MONDO:0009792","Xref__c":"ORPHA:2272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342457","Source__c":"C1850268","Xref__c":"MEDGEN:342457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850268","Source__c":"C1850268","Xref__c":"C1850268"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536272","Source__c":"MONDO:0009792","Xref__c":"C536272"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009792","Source__c":"GARD:0002960","Xref__c":"MONDO:0009792"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["clayton smith-donnai syndrome"," oral and digital anomalies with ichthyosis"]}