{"Name":"Thong Douglas Ferrante syndrome","DiseaseID__c":"GARD:0004841","id":4841,"encodedName":"thong-douglas-ferrante-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Thong Douglas Ferrante syndrome","Xref_IDs__c":"716192009; C4274785; MEDGEN:906653; MONDO:0017316; ORPHA:2866","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017316","Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Thong Douglas Ferrante syndrome","GARD_Synonym__c":"short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome; short stature deafness neutrophil dysfunction; short stature-deafness-neutrophil dysfunction-dysmorphism syndrome; short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome; thong-douglas-ferrante syndrome","Curated_Disease_Description_Source__c":"MONDO:0017316","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.","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:2866","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017316","ORPHANET_ID__c":"ORPHA:2866","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de talla baja-sordera-disfunción neutrófila-dismorfia","Spanish_Description_Source__c":"ORPHA:2866","Spanish_Description__c":"Es un síndrome malformativo congénito poco frecuente, caracterizado por talla baja proporcionada, sordera neurosensorial, mutismo, dismorfia facial e infecciones recurrentes como resultado de una quimiotaxis neutrofílica reducida. No ha habido más casos descritos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de talla baja-sordera-disfunción neutrófila-dismorfia","Spanish_GARD_Synonym__c":"síndrome de talla baja-hipoacusia-disfunción neutrófila-dismorfia","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 developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0017316","GARD_Synonym__c":"short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome; short stature deafness neutrophil dysfunction; short stature-deafness-neutrophil dysfunction-dysmorphism syndrome; short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome; thong-douglas-ferrante syndrome","Name":"Thong Douglas Ferrante 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":"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":"Otolaryngology","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:2866"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2866"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2866","Source__c":"C4274785; MONDO:0017316; ORPHA:2866","Xref__c":"ORPHA:2866"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716192009","Source__c":"C4274785; MONDO:0017316","Xref__c":"716192009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=906653","Source__c":"C4274785","Xref__c":"MEDGEN:906653"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274785","Source__c":"C4274785","Xref__c":"C4274785"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017316","Source__c":"GARD:0004841","Xref__c":"MONDO:0017316"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002300","HPO_Synonym__c":"Inability to speak; Muteness","HPO_Name__c":"Mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal displacement or malposition of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004397","HPO_Synonym__c":"Abnormal anus position; Anus malposition","HPO_Name__c":"Ectopic anus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome"," short stature deafness neutrophil dysfunction"," short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"," short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome"," thong-douglas-ferrante syndrome"]}