{"Name":"Mesomelic dwarfism, Reinhardt-Pfeiffer type","DiseaseID__c":"GARD:0003555","id":3555,"encodedName":"mesomelic-dwarfism-reinhardt-pfeiffer-type","IsDeleted":false,"Disease_Name_Full__c":"Mesomelic dwarfism, Reinhardt-Pfeiffer type","Xref_IDs__c":"715472000; C1860616; C537349; MEDGEN:395935; MONDO:0008618; OMIM:191400; ORPHA:2634","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008618","Disease_Description__c":"A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.","GARD_Name__c":"Mesomelic dwarfism, Reinhardt-Pfeiffer type","GARD_Synonym__c":"mesomelic dwarfism of hypoplastic ulna and fibula type; mesomelic dwarfism reinhardt-pfeiffer type; mesomelic dysplasia of hypoplastic ulna and fibula type; reinhardt pfeiffer mesomelic dysplasia; reinhardt pfeiffer syndrome; reinhardt-pfeiffer mesomelic dysplasia; reinhardt-pfeiffer syndrome; ulna and fibula, hypoplasia of","Curated_Disease_Description_Source__c":"MONDO:0008618","Curated_Disease_Description__c":"A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2634","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008618","ORPHANET_ID__c":"ORPHA:2634","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia mesomélica tipo reinhardt-pfeiffer","Spanish_Description_Source__c":"ORPHA:2634","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por talla baja desproporcionada desde el nacimiento con displasia de cúbito y peroné.","Spanish_Disease_Name__c":"displasia mesomélica tipo reinhardt-pfeiffer","Spanish_GARD_Synonym__c":"displasia mesomélica de reinhardt-pfeiffer; enanismo mesomélico tipo reinhardt-pfeiffer; síndrome de reinhardt-pfeiffer","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 disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.","Curated_Disease_Description_Source__c":"MONDO:0008618","GARD_Synonym__c":"mesomelic dwarfism of hypoplastic ulna and fibula type; mesomelic dwarfism reinhardt-pfeiffer type; mesomelic dysplasia of hypoplastic ulna and fibula type; reinhardt pfeiffer mesomelic dysplasia; reinhardt pfeiffer syndrome; reinhardt-pfeiffer mesomelic dysplasia; reinhardt-pfeiffer syndrome; ulna and fibula, hypoplasia of","Name":"Mesomelic dwarfism, Reinhardt-Pfeiffer 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":"Infancy","Provided_By__c":"ORPHA:2634"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2634"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2634"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2634","Source__c":"C1860616; MONDO:0008618; ORPHA:2634","Xref__c":"ORPHA:2634"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537349","Source__c":"MONDO:0008618","Xref__c":"C537349"},{"URL__c":"https://www.omim.org/entry/191400","Source__c":"C1860616; MONDO:0008618; ORPHA:2634","Xref__c":"OMIM:191400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395935","Source__c":"C1860616","Xref__c":"MEDGEN:395935"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715472000","Source__c":"C1860616; MONDO:0008618","Xref__c":"715472000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860616","Source__c":"C1860616","Xref__c":"C1860616"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008618","Source__c":"GARD:0003555","Xref__c":"MONDO:0008618"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the tibia (shinbone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002992","HPO_Synonym__c":"Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology","HPO_Name__c":"Abnormal tibia morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the head of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003048","HPO_Synonym__c":"Radial subluxation; Radial-head subluxation","HPO_Name__c":"Radial head subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","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:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","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:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2634","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010781","HPO_Synonym__c":"Skin dimples","HPO_Name__c":"Skin dimple","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mesomelic dwarfism of hypoplastic ulna and fibula type"," mesomelic dwarfism reinhardt-pfeiffer type"," mesomelic dysplasia of hypoplastic ulna and fibula type"," reinhardt pfeiffer mesomelic dysplasia"," reinhardt pfeiffer syndrome"," reinhardt-pfeiffer mesomelic dysplasia"," reinhardt-pfeiffer syndrome"," ulna and fibula, hypoplasia of"]}