{"Name":"Wildervanck syndrome","DiseaseID__c":"GARD:0005569","id":5569,"encodedName":"wildervanck-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Wildervanck syndrome","Xref_IDs__c":"79665007; C0265239; MEDGEN:120518; MONDO:0010759; OMIM:314600; ORPHA:3456","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010759","Disease_Description__c":"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.","GARD_Name__c":"Wildervanck syndrome","GARD_Synonym__c":"cervico-oculofacial syndrome; cervicooculoacoustic syndrome; wildervanck's syndrome","Curated_Disease_Description_Source__c":"GARD:0005569","Curated_Disease_Description__c":"Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss. Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown reasons in a family with no prior history (sporadically), though a deletion on the X chromosome was identified in one individual with Wildervanck syndrome. X-linked dominant inheritance has been suggested due to the high prevalence of affected females.","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:3456","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010759","ORPHANET_ID__c":"ORPHA:3456","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de wildervanck","Spanish_Description_Source__c":"ORPHA:3456","Spanish_Description__c":"Es un síndrome caracterizado por la triada: fusión de vértebras cervicales (síndrome de Klippel-Feil), parálisis bilateral del abducens con retracción del globo ocular (síndrome de Duane) y sordera perceptiva congénita.","Spanish_Disease_Name__c":"síndrome de wildervanck","Spanish_GARD_Synonym__c":"síndrome cérvico-ocular-acústico","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":"Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss. Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown reasons in a family with no prior history (sporadically), though a deletion on the X chromosome was identified in one individual with Wildervanck syndrome. X-linked dominant inheritance has been suggested due to the high prevalence of affected females.","Curated_Disease_Description_Source__c":"GARD:0005569","GARD_Synonym__c":"cervico-oculofacial syndrome; cervicooculoacoustic syndrome; wildervanck's syndrome","Name":"Wildervanck 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3456"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3456"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265239","Source__c":"C0265239","Xref__c":"C0265239"},{"URL__c":"https://www.omim.org/entry/314600","Source__c":"C0265239; MONDO:0010759; ORPHA:3456","Xref__c":"OMIM:314600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79665007","Source__c":"C0265239; MONDO:0010759","Xref__c":"79665007"},{"URL__c":"https://www.orpha.net/en/disease/detail/3456","Source__c":"C0265239; MONDO:0010759; ORPHA:3456","Xref__c":"ORPHA:3456"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120518","Source__c":"C0265239","Xref__c":"MEDGEN:120518"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010759","Source__c":"GARD:0005569","Xref__c":"MONDO:0010759"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Hearing loss, congenital sensorineural","HPO_Name__c":"Congenital sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006897","HPO_Synonym__c":"Abducens nerve palsy; Abducens nerve paralysis; Abducens nerve paresis; Cranial nerve VI palsy; Lateral rectus muscle denervation paresis; Sixth nerve palsy","HPO_Name__c":"Abducens palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001132","HPO_Synonym__c":"Partially dislocated lens","HPO_Name__c":"Lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges through a defect of the skull or vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002435","HPO_Name__c":"Meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Apparent optic disc swelling in the absence of increased intracranial pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000538","HPO_Name__c":"Pseudopapilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["cervico-oculofacial syndrome"," cervicooculoacoustic syndrome"," wildervanck's syndrome"]}