{"Name":"Stapes ankylosis with broad thumbs and toes","DiseaseID__c":"GARD:0012631","id":12631,"encodedName":"stapes-ankylosis-with-broad-thumbs-and-toes","IsDeleted":false,"Disease_Name_Full__c":"Stapes ankylosis with broad thumbs and toes","Xref_IDs__c":"719305006; C1866656; MEDGEN:357104; MONDO:0008484; OMIM:184460; ORPHA:140917","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008484","Disease_Description__c":"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.","GARD_Name__c":"Stapes ankylosis with broad thumbs and toes","GARD_Synonym__c":"ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly; stapes ankylosis syndrome without symphalangism; stapes ankylosis with broad thumb and toe syndrome; teunissen cremers syndrome; teunissen-cremers syndrome","Curated_Disease_Description_Source__c":"MONDO:0008484","Curated_Disease_Description__c":"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.","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:140917","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008484","ORPHANET_ID__c":"ORPHA:140917","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anquilosis del estribo con pulgares y dedos de los pies anchos","Spanish_Description_Source__c":"ORPHA:140917","Spanish_Description__c":"Es un trastorno óseo genético y muy poco frecuente caracterizado por anquilosis de estribos, pulgares y halluces anchos, hipoacusia conductiva e hipermetropía.","Spanish_Disease_Name__c":"anquilosis del estribo con pulgares y dedos de los pies anchos","Spanish_GARD_Synonym__c":"síndrome de teunissen-cremers","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":"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.","Curated_Disease_Description_Source__c":"MONDO:0008484","GARD_Synonym__c":"ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly; stapes ankylosis syndrome without symphalangism; stapes ankylosis with broad thumb and toe syndrome; teunissen cremers syndrome; teunissen-cremers syndrome","Name":"Stapes ankylosis with broad thumbs and toes","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:140917"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:140917"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866656","Source__c":"C1866656","Xref__c":"C1866656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357104","Source__c":"C1866656","Xref__c":"MEDGEN:357104"},{"URL__c":"https://www.omim.org/entry/184460","Source__c":"C1866656; MONDO:0008484; ORPHA:140917","Xref__c":"OMIM:184460"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719305006","Source__c":"C1866656; MONDO:0008484","Xref__c":"719305006"},{"URL__c":"https://www.orpha.net/en/disease/detail/140917","Source__c":"C1866656; MONDO:0008484; ORPHA:140917","Xref__c":"ORPHA:140917"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008484","Source__c":"GARD:0012631","Xref__c":"MONDO:0008484"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NOG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nog","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:184460","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":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Columella extending inferior to the level of the nasal base, when viewed from the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009765","HPO_Synonym__c":"Columella, low; Columella, low hanging; Extension of the columella below the ala nasi; Low-hanging columella","HPO_Name__c":"Low hanging columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003189","HPO_Synonym__c":"Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation","HPO_Name__c":"Long nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000381","HPO_Synonym__c":"Stapes fixation","HPO_Name__c":"Stapes ankylosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:184460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","Feature__r":{"HPO_Description__c":"Fusion of the proximal and middle phalanges of the 5th finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009177","HPO_Synonym__c":"Fused innermost and middle bones of little finger; Fused innermost and middle bones of pinkie finger; Fused innermost and middle bones of pinky finger; Proximal 5th finger symphalangism; Proximal fifth finger symphalangism; Symphalangism of the proximal and middle phalanges of the 5th finger","HPO_Name__c":"Proximal fifth finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000466","HPO_Synonym__c":"Limited cervical range of motion; Limited neck range of motion","HPO_Name__c":"Limited neck range of motion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of stapes ankylosis with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007943","HPO_Name__c":"Congenital stapes ankylosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly"," stapes ankylosis syndrome without symphalangism"," stapes ankylosis with broad thumb and toe syndrome"," teunissen cremers syndrome"," teunissen-cremers syndrome"]}