{"Name":"Mesomelic dysplasia, Kantaputra type","DiseaseID__c":"GARD:0003074","id":3074,"encodedName":"mesomelic-dysplasia-kantaputra-type","IsDeleted":false,"Disease_Name_Full__c":"Mesomelic dysplasia, Kantaputra type","Xref_IDs__c":"719397009; C1835009; C535547; MEDGEN:331880; MONDO:0007977; OMIM:156232; ORPHA:1836","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007977","Disease_Description__c":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.","GARD_Name__c":"Mesomelic dysplasia, Kantaputra type","GARD_Synonym__c":"kantaputra mesomelic dysplasia; mdk; mesomelic dysplasia kantaputra type; mesomelic dysplasia thai type; mesomelic dysplasia with ankle carpal and tarsal synostosis; mesomelic dysplasia, thai type","Curated_Disease_Description_Source__c":"MONDO:0007977","Curated_Disease_Description__c":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1836","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007977","ORPHANET_ID__c":"ORPHA:1836","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia mesomélica tipo kantaputra","Spanish_Description_Source__c":"ORPHA:1836","Spanish_Description__c":"La displasia mesomélica tipo Kantaputra es una enfermedad esquelética rara caracterizada por unos segmentos medios de las extremidades cortos y simétricos y estatura baja.","Spanish_Disease_Name__c":"displasia mesomélica tipo kantaputra","Spanish_GARD_Synonym__c":"displasia mesomélica de kantaputra; displasia mesomélica tipo thai; mdk","Category_Linearization__c":"ORPHA:93419","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":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.","Curated_Disease_Description_Source__c":"MONDO:0007977","GARD_Synonym__c":"kantaputra mesomelic dysplasia; mdk; mesomelic dysplasia kantaputra type; mesomelic dysplasia thai type; mesomelic dysplasia with ankle carpal and tarsal synostosis; mesomelic dysplasia, thai type","Name":"Mesomelic dysplasia, Kantaputra type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"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:1836"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835009"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/156232","Source__c":"C1835009; MONDO:0007977; ORPHA:1836","Xref__c":"OMIM:156232"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719397009","Source__c":"C1835009; MONDO:0007977","Xref__c":"719397009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535547","Source__c":"MONDO:0007977","Xref__c":"C535547"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331880","Source__c":"C1835009","Xref__c":"MEDGEN:331880"},{"URL__c":"https://www.orpha.net/en/disease/detail/1836","Source__c":"C1835009; MONDO:0007977; ORPHA:1836","Xref__c":"ORPHA:1836"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835009","Source__c":"C1835009","Xref__c":"C1835009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007977","Source__c":"GARD:0003074","Xref__c":"MONDO:0007977"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The humerus is shortened and displays flaring (widening) of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005009","HPO_Synonym__c":"Dumbbell-shaped long bone in upper arm","HPO_Name__c":"Dumbbell-shaped humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","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:1836","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the structure of the humerus (i.e., upper arm bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031095","HPO_Synonym__c":"Abnormality of the humerus","HPO_Name__c":"Abnormal humerus morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Occasional (5-29%)","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:1836","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal positioning in which the elbows are turned out.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002967","HPO_Synonym__c":"Outward turned elbows","HPO_Name__c":"Cubitus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1836","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001883","HPO_Name__c":"Talipes","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["kantaputra mesomelic dysplasia"," mdk"," mesomelic dysplasia kantaputra type"," mesomelic dysplasia thai type"," mesomelic dysplasia with ankle carpal and tarsal synostosis"," mesomelic dysplasia, thai type"]}