{"Name":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","DiseaseID__c":"GARD:0018784","id":18784,"encodedName":"mirror-polydactyly-vertebral-segmentation-limbs-defects-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","Xref_IDs__c":"C4275100; MEDGEN:904039; MONDO:0017583; ORPHA:3004","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":3,"Description_Source__c":"MONDO:0017583","Disease_Description__c":"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.","GARD_Name__c":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","GARD_Synonym__c":"mirror polydactyly, vertebral segmentation and limb defect syndrome","Curated_Disease_Description_Source__c":"ORPHA:3004","Curated_Disease_Description__c":"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3004","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017583","ORPHANET_ID__c":"ORPHA:3004","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de polidactilia en espejo-segmentación vertebral-anomalías de las extremidades","Spanish_Description_Source__c":"ORPHA:3004","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por polidactilia en espejo, hipersegmentación vertebral y anomalías congénitas graves de los miembros. También se registró atresia duodenal y ausencia de timo. Hasta la fecha se ha descrito en cuatro niños sin parentesco identificados a través de un programa de detección de malformaciones congénitas realizado en España. Se estima una prevalencia de aproximada de 1 entre 330.000 individuos. La etiología es desconocida, aunque se ha sugerido que el síndrome está causado por la expresión defectuosa de un gen de control del desarrollo.","Spanish_Disease_Name__c":"síndrome de polidactilia en espejo-segmentación vertebral-anomalías de las extremidades","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 disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.","Curated_Disease_Description_Source__c":"ORPHA:3004","GARD_Synonym__c":"mirror polydactyly, vertebral segmentation and limb defect syndrome","Name":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:3004"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3004"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3004"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275100","Source__c":"C4275100","Xref__c":"C4275100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=904039","Source__c":"C4275100","Xref__c":"MEDGEN:904039"},{"URL__c":"https://www.orpha.net/en/disease/detail/3004","Source__c":"C4275100; MONDO:0017583; ORPHA:3004","Xref__c":"ORPHA:3004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017583","Source__c":"GARD:0018784","Xref__c":"MONDO:0017583"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715523005","Source__c":"C4275100","Xref__c":"715523005"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005359","HPO_Synonym__c":"Absent thymus; Athymia","HPO_Name__c":"Aplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009829","HPO_Name__c":"Phocomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3004","HPO_Frequency__c":"Very frequent (80-99%)","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":["mirror polydactyly, vertebral segmentation and limb defect syndrome"]}