{"Name":"Brachydactyly-nystagmus-cerebellar ataxia syndrome","DiseaseID__c":"GARD:0000971","id":971,"encodedName":"brachydactyly-nystagmus-cerebellar-ataxia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly-nystagmus-cerebellar ataxia syndrome","Xref_IDs__c":"205828009; C1862099; C566192; MEDGEN:350589; MONDO:0007226; OMIM:113400; ORPHA:1246","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Description_Source__c":"MONDO:0007226","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.","GARD_Name__c":"Brachydactyly-nystagmus-cerebellar ataxia syndrome","GARD_Synonym__c":"biemond syndrome; brachydactyly-nystagmus-cerebellar ataxia","Curated_Disease_Description_Source__c":"MONDO:0007226","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:1246","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007226","ORPHANET_ID__c":"ORPHA:1246","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de braquidactilia-nistagmo-ataxia cerebelosa","Spanish_Description_Source__c":"ORPHA:1246","Spanish_Description__c":"Es un síndrome dismórfico/ con anomalías congénitas múltiples poco frecuente caracterizado por braquidactilia, nistagmo y ataxia cerebelosa. También se ha descrito déficit intelectual y estrabismo. No ha habido más descripciones en la literatura desde 1934.","Spanish_Disease_Name__c":"síndrome de braquidactilia-nistagmo-ataxia cerebelosa","Spanish_GARD_Synonym__c":"síndrome de biemond","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 multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.","Curated_Disease_Description_Source__c":"MONDO:0007226","GARD_Synonym__c":"biemond syndrome; brachydactyly-nystagmus-cerebellar ataxia","Name":"Brachydactyly-nystagmus-cerebellar ataxia 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":"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":"Infancy","Provided_By__c":"ORPHA:1246"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862099","Source__c":"C1862099","Xref__c":"C1862099"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350589","Source__c":"C1862099","Xref__c":"MEDGEN:350589"},{"URL__c":"https://www.omim.org/entry/113400","Source__c":"C1862099; MONDO:0007226; ORPHA:1246","Xref__c":"OMIM:113400"},{"URL__c":"https://www.orpha.net/en/disease/detail/1246","Source__c":"C1862099; MONDO:0007226","Xref__c":"ORPHA:1246"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205828009","Source__c":"MONDO:0007226","Xref__c":"205828009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566192","Source__c":"MONDO:0007226","Xref__c":"C566192"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007226","Source__c":"GARD:0000971","Xref__c":"MONDO:0007226"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:113400","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:113400","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:113400","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:113400","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:113400","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:113400","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":"OMIM:113400","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["biemond syndrome"," brachydactyly-nystagmus-cerebellar ataxia"]}