{"Name":"Caudal appendage-deafness syndrome","DiseaseID__c":"GARD:0001163","id":1163,"encodedName":"caudal-appendage-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Caudal appendage-deafness syndrome","Xref_IDs__c":"726621009; C2931593; C537713; MEDGEN:419843; MONDO:0015233; ORPHA:1123","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015233","Disease_Description__c":"Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.","GARD_Name__c":"Caudal appendage-deafness syndrome","GARD_Synonym__c":"caudal appendage deafness syndrome; caudal appendage-hearing loss syndrome; lynch lee murday syndrome; lynch-lee-murday syndrome","Curated_Disease_Description_Source__c":"MONDO:0015233","Curated_Disease_Description__c":"Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1123","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015233","ORPHANET_ID__c":"ORPHA:1123","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de apéndice caudal-sordera","Spanish_Description_Source__c":"ORPHA:1123","Spanish_Description__c":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por apéndice caudal, falanges terminales cortas y sordera. Las características clínicas adicionales pueden incluir talla baja, discapacidad intelectual, dismorfia facial y criptorquidia. No ha habido más descripciones en la literatura desde 1994.","Spanish_Disease_Name__c":"síndrome de apéndice caudal-sordera","Spanish_GARD_Synonym__c":"síndrome de apéndice caudal-hipoacusia; síndrome de lynch-lee-murday","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":"Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.","Curated_Disease_Description_Source__c":"MONDO:0015233","GARD_Synonym__c":"caudal appendage deafness syndrome; caudal appendage-hearing loss syndrome; lynch lee murday syndrome; lynch-lee-murday syndrome","Name":"Caudal appendage-deafness 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":"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":"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":"Neonatal","Provided_By__c":"ORPHA:1123"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726621009","Source__c":"C2931593; MONDO:0015233","Xref__c":"726621009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537713","Source__c":"MONDO:0015233","Xref__c":"C537713"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931593","Source__c":"C2931593","Xref__c":"C2931593"},{"URL__c":"https://www.orpha.net/en/disease/detail/1123","Source__c":"C2931593; MONDO:0015233; ORPHA:1123","Xref__c":"ORPHA:1123"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419843","Source__c":"C2931593","Xref__c":"MEDGEN:419843"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015233","Source__c":"GARD:0001163","Xref__c":"MONDO:0015233"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment with infantile onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008610","HPO_Synonym__c":"Infantile sensorineural hearing loss","HPO_Name__c":"Infantile sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a tail-like skin appendage located adjacent to the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002825","HPO_Synonym__c":"Coccygeal tail; Human tail; Sacral appendage","HPO_Name__c":"Caudal appendage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of a digit, i.e., of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011297","HPO_Synonym__c":"Abnormality of digit; Abnormality of fingers or toes; Digital anomalies","HPO_Name__c":"Abnormal digit morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1123","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["caudal appendage deafness syndrome"," caudal appendage-hearing loss syndrome"," lynch lee murday syndrome"," lynch-lee-murday syndrome"]}