{"Name":"Karsch-Neugebauer syndrome","DiseaseID__c":"GARD:0004967","id":4967,"encodedName":"karsch-neugebauer-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Karsch-Neugebauer syndrome","Xref_IDs__c":"722032005; C1866740; C537319; MEDGEN:401072; MONDO:0008466; OMIM:183800; ORPHA:2329","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:0008466","Disease_Description__c":"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.","GARD_Name__c":"Karsch-Neugebauer syndrome","GARD_Synonym__c":"karsch neugebauer syndrome; split hand/split foot-nystagmus syndrome; split-hand with congenital nystagmus, fundal changes, and cataracts","Curated_Disease_Description_Source__c":"GARD:0004967","Curated_Disease_Description__c":"Karsch-Neugebauer syndrome is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified.","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:2329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008466","ORPHANET_ID__c":"ORPHA:2329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de karsck-neugebauer","Spanish_Description_Source__c":"ORPHA:2329","Spanish_Description__c":"El síndrome de Karsch-Neugebauer es un síndrome poco frecuente caracterizado por una deformidad de mano y pie hendidos y anomalías oculares, principalmente nistagmo congénito.","Spanish_Disease_Name__c":"síndrome de karsck-neugebauer","Spanish_GARD_Synonym__c":"manos y pies hendidos-nistagmo","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":"Karsch-Neugebauer syndrome is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified.","Curated_Disease_Description_Source__c":"GARD:0004967","GARD_Synonym__c":"karsch neugebauer syndrome; split hand/split foot-nystagmus syndrome; split-hand with congenital nystagmus, fundal changes, and cataracts","Name":"Karsch-Neugebauer syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2329"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2329"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722032005","Source__c":"C1866740; MONDO:0008466","Xref__c":"722032005"},{"URL__c":"https://www.omim.org/entry/183800","Source__c":"C1866740; MONDO:0008466; ORPHA:2329","Xref__c":"OMIM:183800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401072","Source__c":"C1866740","Xref__c":"MEDGEN:401072"},{"URL__c":"https://www.orpha.net/en/disease/detail/2329","Source__c":"C1866740; MONDO:0008466; ORPHA:2329","Xref__c":"ORPHA:2329"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866740","Source__c":"C1866740","Xref__c":"C1866740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537319","Source__c":"MONDO:0008466","Xref__c":"C537319"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008466","Source__c":"GARD:0004967","Xref__c":"MONDO:0008466"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:183800","Feature__r":{"HPO_Description__c":"Nystagmus dating from or present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006934","HPO_Name__c":"Congenital nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:183800","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:183800","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:183800","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:183800","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:183800","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:183800","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004058","HPO_Name__c":"Hand monodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:183800","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["karsch neugebauer syndrome"," split hand/split foot-nystagmus syndrome"," split-hand with congenital nystagmus, fundal changes, and cataracts"]}