{"Name":"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome","DiseaseID__c":"GARD:0017351","id":17351,"encodedName":"hypertelorism-preauricular-sinus-punctual-pits-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome","Xref_IDs__c":"C4751125; MEDGEN:1659106; MONDO:0013614; OMIM:614187; ORPHA:293958","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:293958","Disease_Description__c":"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.","GARD_Name__c":"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome","GARD_Synonym__c":"hppd; hppd (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome; hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome; hypertelorism, preauricular sinus, punctal pits, and deafness; hypertelorism, preauricular sinus, punctual pits, deafness syndrome; hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome","Curated_Disease_Description_Source__c":"ORPHA:293958","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.","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:293958","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013614","ORPHANET_ID__c":"ORPHA:293958","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipertelorismo-senos preauriculares-obstrucción del conducto lagrimal-sordera","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipertelorismo-senos preauriculares-obstrucción del conducto lagrimal-sordera","Spanish_GARD_Synonym__c":"hppd; síndrome de hipertelorismo-seno preauricular-obstrucción del conducto lagrimal-hipoacusia","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 syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.","Curated_Disease_Description_Source__c":"ORPHA:293958","GARD_Synonym__c":"hppd; hppd (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome; hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome; hypertelorism, preauricular sinus, punctal pits, and deafness; hypertelorism, preauricular sinus, punctual pits, deafness syndrome; hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome","Name":"Hypertelorism-preauricular sinus-punctual pits-deafness 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":"Infancy","Provided_By__c":"ORPHA:293958"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293958"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1659106","Source__c":"C4751125","Xref__c":"MEDGEN:1659106"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751125","Source__c":"C4751125","Xref__c":"C4751125"},{"URL__c":"https://www.orpha.net/en/disease/detail/293958","Source__c":"C4751125; MONDO:0013614; ORPHA:293958","Xref__c":"ORPHA:293958"},{"URL__c":"https://www.omim.org/entry/614187","Source__c":"C4751125; MONDO:0013614; ORPHA:293958","Xref__c":"OMIM:614187"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773667003","Source__c":"C4751125","Xref__c":"773667003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013614","Source__c":"GARD:0017351","Xref__c":"MONDO:0013614"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614187","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000579","HPO_Synonym__c":"Blocked tear duct; Lacrimal duct obstruction","HPO_Name__c":"Nasolacrimal duct obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614187","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614187","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Superior margin of the scrotum superior to the base of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000049","HPO_Synonym__c":"Overriding scrotum; Scrotum surrounds penis","HPO_Name__c":"Shawl scrotum","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["hppd"," hppd (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome"," hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"," hypertelorism, preauricular sinus, punctal pits, and deafness"," hypertelorism, preauricular sinus, punctual pits, deafness syndrome"," hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome"]}