{"Name":"Brachydactylous dwarfism, Mseleni type","DiseaseID__c":"GARD:0000960","id":960,"encodedName":"brachydactylous-dwarfism-mseleni-type","IsDeleted":false,"Disease_Name_Full__c":"Brachydactylous dwarfism, Mseleni type","Xref_IDs__c":"715470008; C2931420; C537086; MEDGEN:419408; MONDO:0013232; OMIM:613342; ORPHA:2619","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013232","Disease_Description__c":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.","GARD_Name__c":"Brachydactylous dwarfism, Mseleni type","GARD_Synonym__c":"brachydactylous dwarfism mseleni type; mseleni joint disease","Curated_Disease_Description_Source__c":"MONDO:0013232","Curated_Disease_Description__c":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2619","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013232","ORPHANET_ID__c":"ORPHA:2619","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja significativa con braquidactilia tipo mseleni","Spanish_Description_Source__c":"ORPHA:2619","Spanish_Description__c":"Es una condrodisplasia poco frecuente e incapacitante, que se presenta principalmente en la región de Maputaland, en el norte de Kwazulu Natal, Sudáfrica. Está caracterizada por artropatía bilateral y uniforme de las articulaciones que afecta principalmente a la cadera y, con menor frecuencia, a otras articulaciones (rodillas, tobillos, muñecas, hombros, codos), manifestándose con dolor y rigidez articular que limitan progresivamente el movimiento y comprometen eventualmente la capacidad de deambulación. En algunos pacientes se ha descrito talla baja extrema y braquidactilia.","Spanish_Disease_Name__c":"talla baja significativa con braquidactilia tipo mseleni","Spanish_GARD_Synonym__c":"enanismo con braquidactilia tipo mseleni; enfermedad articular de mseleni","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":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.","Curated_Disease_Description_Source__c":"MONDO:0013232","GARD_Synonym__c":"brachydactylous dwarfism mseleni type; mseleni joint disease","Name":"Brachydactylous dwarfism, Mseleni type","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:2619"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2619","Source__c":"C2931420; MONDO:0013232; ORPHA:2619","Xref__c":"ORPHA:2619"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537086","Source__c":"MONDO:0013232","Xref__c":"C537086"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419408","Source__c":"C2931420","Xref__c":"MEDGEN:419408"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931420","Source__c":"C2931420","Xref__c":"C2931420"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715470008","Source__c":"C2931420; MONDO:0013232","Xref__c":"715470008"},{"URL__c":"https://www.omim.org/entry/613342","Source__c":"C2931420; MONDO:0013232; ORPHA:2619","Xref__c":"OMIM:613342"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013232","Source__c":"GARD:0000960","Xref__c":"MONDO:0013232"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionately short middle and distal phalanges compared to the hand/foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005872","HPO_Synonym__c":"Progressive brachydactyly of middle and distal phalanges; Short middle and distal phalanges of digits ii through v","HPO_Name__c":"Brachytelomesophalangy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the femoral head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003368","HPO_Synonym__c":"Abnormal head of thigh bone; Abnormality of the femoral head","HPO_Name__c":"Abnormal femoral head morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A partial dislocation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032153","HPO_Name__c":"Joint subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002654","HPO_Name__c":"Multiple epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003940","HPO_Name__c":"Osteoarthritis of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A abnormal increase in the inflammatory response to injury or infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012649","HPO_Name__c":"Increased inflammatory response","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intrapelvic bulging of the medial acetabular wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003179","HPO_Synonym__c":"Abnormally indented hip sockets; Acetabular protrusion; Protrusio acetabulae","HPO_Name__c":"Protrusio acetabuli","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005086","HPO_Name__c":"Knee osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","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:2619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009742","HPO_Synonym__c":"Stiff shoulders","HPO_Name__c":"Stiff shoulders","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["brachydactylous dwarfism mseleni type"," mseleni joint disease"]}