{"Name":"Branchiogenic deafness syndrome","DiseaseID__c":"GARD:0016648","id":16648,"encodedName":"branchiogenic-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Branchiogenic deafness syndrome","Xref_IDs__c":"717944002; C1836673; C563780; MEDGEN:322970; MONDO:0012209; OMIM:609166; ORPHA:50815","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":"MONDO:0012209","Disease_Description__c":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.","GARD_Name__c":"Branchiogenic deafness syndrome","GARD_Synonym__c":"branchiogenic hearing loss syndrome; megarbane loiselet syndrome; mégarbané-loiselet syndrome","Curated_Disease_Description_Source__c":"MONDO:0012209","Curated_Disease_Description__c":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.","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:50815","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012209","ORPHANET_ID__c":"ORPHA:50815","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera branquiogénica","Spanish_Description_Source__c":"ORPHA:50815","Spanish_Description__c":"El síndrome de sordera branquiogénica es un síndrome de anomalías congénitas múltiples, descrito en una sola familia hasta la fecha y caracterizado por la presencia de quistes branquiales o fístulas; malformaciones en las orejas; pérdida auditiva congénita (conductiva, neurosensorial y mixta); hipoplasia del canal auditivo interno; estrabismo; trismus; quintos dedos de manos anómalos; lesiones en piel tipo vitíligo (hipopigmentadas, blanquecinas), baja estatura; y leve discapacidad en el aprendizaje. No se presentan anomalías renales ni uretrales.","Spanish_Disease_Name__c":"síndrome de sordera branquiogénica","Spanish_GARD_Synonym__c":"síndrome de hipoacusia branquiogénica; síndrome de mégarbané-loiselet","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":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.","Curated_Disease_Description_Source__c":"MONDO:0012209","GARD_Synonym__c":"branchiogenic hearing loss syndrome; megarbane loiselet syndrome; mégarbané-loiselet syndrome","Name":"Branchiogenic 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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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:50815"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:50815"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/609166","Source__c":"C1836673; MONDO:0012209; ORPHA:50815","Xref__c":"OMIM:609166"},{"URL__c":"https://www.orpha.net/en/disease/detail/50815","Source__c":"C1836673; MONDO:0012209; ORPHA:50815","Xref__c":"ORPHA:50815"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717944002","Source__c":"C1836673; MONDO:0012209","Xref__c":"717944002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836673","Source__c":"C1836673","Xref__c":"C1836673"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322970","Source__c":"C1836673","Xref__c":"MEDGEN:322970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563780","Source__c":"MONDO:0012209","Xref__c":"C563780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012209","Source__c":"GARD:0016648","Xref__c":"MONDO:0012209"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000396","HPO_Synonym__c":"Over-folded helices; Overfolded ears; Overfolded helices","HPO_Name__c":"Overfolded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009796","HPO_Synonym__c":"Branchial cysts","HPO_Name__c":"Branchial cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009839","HPO_Synonym__c":"Acro-osteolysis of distal phalanges; Acroosteolysis of distal phalanges; Osteolytic defects of the outermost finger bone of the hand","HPO_Name__c":"Osteolytic defects of the distal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased posterolateral protrusion of the tragus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011272","HPO_Synonym__c":"Hypoplastic tragus; Hypotrophic tragus; Small tragus","HPO_Name__c":"Underdeveloped tragus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or failure to form of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000413","HPO_Synonym__c":"Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia","HPO_Name__c":"Atresia of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007427","HPO_Name__c":"Reticulated skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","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:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004452","HPO_Synonym__c":"Malformed ossicles; Ossicular malformation","HPO_Name__c":"Abnormality of the middle ear ossicles","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia or developmental hypoplasia of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008774","HPO_Synonym__c":"Absent/small inner ear; Absent/underdeveloped inner ear","HPO_Name__c":"Aplasia/Hypoplasia of the inner ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","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:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50815","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009795","HPO_Synonym__c":"Branchial cleft fistula","HPO_Name__c":"Branchial fistula","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["branchiogenic hearing loss syndrome"," megarbane loiselet syndrome"," mégarbané-loiselet syndrome"]}