{"Name":"Neuroectodermal-endocrine syndrome","DiseaseID__c":"GARD:0003959","id":3959,"encodedName":"neuroectodermal-endocrine-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Neuroectodermal-endocrine syndrome","Xref_IDs__c":"724090001; CN281966; MEDGEN:965021; MONDO:0017045","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017045","Disease_Description__c":"Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.","GARD_Name__c":"Neuroectodermal-endocrine syndrome","GARD_Synonym__c":"oerter-friedman-anderson syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C0342286","Curated_Disease_Description__c":"Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral post-lingual sensorineural hearing loss, and mild intellectual disability. To date 32 families (including 23 with a molecularly confirmed diagnosis) with a total of 76 affected individuals have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017045","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral post-lingual sensorineural hearing loss, and mild intellectual disability. To date 32 families (including 23 with a molecularly confirmed diagnosis) with a total of 76 affected individuals have been reported.","Curated_Disease_Description_Source__c":"MEDGEN:C0342286","GARD_Synonym__c":"oerter-friedman-anderson syndrome","Name":"Neuroectodermal-endocrine syndrome","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342286"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK378974","Source__c":"Gene Review","Xref__c":"NBK378974"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724090001","Source__c":"MONDO:0017045","Xref__c":"724090001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017045","Source__c":"GARD:0003959","Xref__c":"MONDO:0017045"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN281966","Source__c":"CN281966","Xref__c":"CN281966"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=965021","Source__c":"CN281966","Xref__c":"MEDGEN:965021"}],"tags":{},"synonyms":["oerter-friedman-anderson syndrome"]}