{"Name":"Otoonychoperoneal syndrome","DiseaseID__c":"GARD:0004170","id":4170,"encodedName":"otoonychoperoneal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Otoonychoperoneal syndrome","Xref_IDs__c":"441944007; C1850105; C564912; MEDGEN:376704; MONDO:0009822; OMIM:259780; ORPHA:2793","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2793","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.","GARD_Name__c":"Otoonychoperoneal syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:2793","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2793","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009822","ORPHANET_ID__c":"ORPHA:2793","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome oto-ónico-peroneal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome oto-ónico-peroneal","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 multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:2793","Name":"Otoonychoperoneal 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":"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":"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:2793"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2793"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2793","Source__c":"C1850105; MONDO:0009822; ORPHA:2793","Xref__c":"ORPHA:2793"},{"URL__c":"https://www.omim.org/entry/259780","Source__c":"C1850105; MONDO:0009822; ORPHA:2793","Xref__c":"OMIM:259780"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564912","Source__c":"MONDO:0009822","Xref__c":"C564912"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850105","Source__c":"C1850105","Xref__c":"C1850105"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376704","Source__c":"C1850105","Xref__c":"MEDGEN:376704"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=441944007","Source__c":"MONDO:0009822","Xref__c":"441944007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009822","Source__c":"GARD:0004170","Xref__c":"MONDO:0009822"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009756","HPO_Name__c":"Popliteal pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the helix that either affects the entire helix, or is localized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008577","HPO_Synonym__c":"Poorly folded helices","HPO_Name__c":"Underfolded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011039","HPO_Synonym__c":"Abnormal helices; Abnormality of the helix; Helix abnormal","HPO_Name__c":"Abnormal helix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ear lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009906","HPO_Synonym__c":"Absent/small ear lobes; Absent/underdeveloped ear lobes","HPO_Name__c":"Aplasia/Hypoplasia of the earlobes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009738","HPO_Synonym__c":"Abnormal antehelix; Abnormal anthelix; Abnormal antihelix","HPO_Name__c":"Abnormal antihelix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2793","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000940","HPO_Synonym__c":"Abnormal shape of shaft of long bone; Abnormality involving the diaphyses of the limbs; Abnormality of shaft of long bone of the limbs; Abnormality of the diaphyses; Anomaly of the limb diaphyses; Anomaly of the limb diaphyses morphology","HPO_Name__c":"Abnormal diaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}