{"Name":"Cervical hypertrichosis-peripheral neuropathy syndrome","DiseaseID__c":"GARD:0001226","id":1226,"encodedName":"cervical-hypertrichosis-peripheral-neuropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cervical hypertrichosis-peripheral neuropathy syndrome","Xref_IDs__c":"C1855902; C565492; MEDGEN:341004; MONDO:0009405; OMIM:239840; ORPHA:2218","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009405","Disease_Description__c":"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Cervical hypertrichosis-peripheral neuropathy syndrome","GARD_Synonym__c":"hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy","Curated_Disease_Description_Source__c":"MONDO:0009405","Curated_Disease_Description__c":"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2218","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009405","ORPHANET_ID__c":"ORPHA:2218","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipertricosis cervical-neuropatía periférica","Spanish_Description_Source__c":"ORPHA:2218","Spanish_Description__c":"Es un síndrome poco frecuente de origen genético caracterizado por la asociación de hipertricosis congénita en la región cervical anterior con neuropatía sensitivo-motora periférica. Las características asociadas pueden incluir anomalías retinianas, espina bífida, cifoescoliosis y hallux valgus, así como retraso del desarrollo (en un caso). No ha habido más descripciones en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de hipertricosis cervical-neuropatía periférica","Spanish_GARD_Synonym__c":null,"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 genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MONDO:0009405","GARD_Synonym__c":"hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy","Name":"Cervical hypertrichosis-peripheral neuropathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.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":"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2218"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565492","Source__c":"MONDO:0009405","Xref__c":"C565492"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341004","Source__c":"C1855902","Xref__c":"MEDGEN:341004"},{"URL__c":"https://www.omim.org/entry/239840","Source__c":"C1855902; MONDO:0009405; ORPHA:2218","Xref__c":"OMIM:239840"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855902","Source__c":"C1855902","Xref__c":"C1855902"},{"URL__c":"https://www.orpha.net/en/disease/detail/2218","Source__c":"C1855902; MONDO:0009405","Xref__c":"ORPHA:2218"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009405","Source__c":"GARD:0001226","Xref__c":"MONDO:0009405"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the periosteum","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040165","HPO_Synonym__c":"Periostalgia","HPO_Name__c":"Periostitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy"]}