{"Name":"Conductive deafness-ptosis-skeletal anomalies syndrome","DiseaseID__c":"GARD:0000305","id":305,"encodedName":"conductive-deafness-ptosis-skeletal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Conductive deafness-ptosis-skeletal anomalies syndrome","Xref_IDs__c":"763213001; C1857340; C535993; MEDGEN:347428; MONDO:0009084; OMIM:221320; ORPHA:3236","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009084","Disease_Description__c":"Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Conductive deafness-ptosis-skeletal anomalies syndrome","GARD_Synonym__c":"conductive deafness, ptosis, skeletal anomalies syndrome; conductive hearing loss-ptosis-skeletal anomalies syndrome; deafness, conductive, with ptosis and skeletal anomalies; jackson barr syndrome; jackson-barr syndrome","Curated_Disease_Description_Source__c":"MONDO:0009084","Curated_Disease_Description__c":"Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. 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":null,"SourceID__c":"ORPHA:3236","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009084","ORPHANET_ID__c":"ORPHA:3236","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera conductiva-ptosis-anomalías esqueléticas","Spanish_Description_Source__c":"ORPHA:3236","Spanish_Description__c":"El síndrome de sordera conductiva-ptosis-anomalías esqueléticas es un síndrome genético poco frecuente de displasia ectodérmica caracterizado por pérdida auditiva conductiva debida a atresia del canal auditivo externo y del oído medio complicada por infecciones crónicas, ptosis y anomalías esqueléticas (rotación interna de las caderas, dislocación de las cabezas radiales y clinodactilia del quinto dedo). Además, está asociado a una nariz delgada y picuda, retraso del crecimiento del cabello y dientes displásicos. No se han descrito nuevos casos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de sordera conductiva-ptosis-anomalías esqueléticas","Spanish_GARD_Synonym__c":"síndrome de hipoacusia conductiva-ptosis-anomalías esqueléticas; síndrome de jackson-barr","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":"Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0009084","GARD_Synonym__c":"conductive deafness, ptosis, skeletal anomalies syndrome; conductive hearing loss-ptosis-skeletal anomalies syndrome; deafness, conductive, with ptosis and skeletal anomalies; jackson barr syndrome; jackson-barr syndrome","Name":"Conductive deafness-ptosis-skeletal anomalies 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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:3236"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535993","Source__c":"MONDO:0009084","Xref__c":"C535993"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347428","Source__c":"C1857340","Xref__c":"MEDGEN:347428"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763213001","Source__c":"C1857340; MONDO:0009084","Xref__c":"763213001"},{"URL__c":"https://www.omim.org/entry/221320","Source__c":"C1857340; MONDO:0009084; ORPHA:3236","Xref__c":"OMIM:221320"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857340","Source__c":"C1857340","Xref__c":"C1857340"},{"URL__c":"https://www.orpha.net/en/disease/detail/3236","Source__c":"C1857340; MONDO:0009084; ORPHA:3236","Xref__c":"ORPHA:3236"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009084","Source__c":"GARD:0000305","Xref__c":"MONDO:0009084"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003272","HPO_Synonym__c":"Abnormality of the hip bone; Abnormality of the hips","HPO_Name__c":"Abnormal hip bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased width of the bony bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000446","HPO_Synonym__c":"Narrow bridge of nose; Narrow nasal bridge; Narrow nasal root; Nasal Bridge, Narrow; Nasal bridge, thin","HPO_Name__c":"Narrow nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","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:3236","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia or developmental hypoplasia of all or part of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008773","HPO_Synonym__c":"Absent/small middle ear; Absent/underdeveloped middle ear; Hypoplastic/aplastic middle ear structures; Middle ear hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the middle ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","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:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3236","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["conductive deafness, ptosis, skeletal anomalies syndrome"," conductive hearing loss-ptosis-skeletal anomalies syndrome"," deafness, conductive, with ptosis and skeletal anomalies"," jackson barr syndrome"," jackson-barr syndrome"]}