{"Name":"Acromesomelic dysplasia","DiseaseID__c":"GARD:0000006","id":6,"encodedName":"acromesomelic-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Acromesomelic dysplasia","Xref_IDs__c":"C5235036; C535658; DOID:0080049; MEDGEN:1710812; MONDO:0019696; OMIMPS:602875; ORPHA:93437","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019696","Disease_Description__c":"A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type","GARD_Name__c":"Acromesomelic dysplasia","GARD_Synonym__c":"acromesomelic dwarfism; acromesomelic dysplasia group; acromesomelic dysplasia syndrome","Curated_Disease_Description_Source__c":"GARD:0000006","Curated_Disease_Description__c":"Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of Acromesomelic dysplasia, which are distinguished by their genetic cause.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019696","ORPHANET_ID__c":"ORPHA:93437","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia acromesomélica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia acromesomélica","Spanish_GARD_Synonym__c":null,"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":"Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of Acromesomelic dysplasia, which are distinguished by their genetic cause.","Curated_Disease_Description_Source__c":"GARD:0000006","GARD_Synonym__c":"acromesomelic dwarfism; acromesomelic dysplasia group; acromesomelic dysplasia syndrome","Name":"Acromesomelic dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"UCLA International Skeletal Dysplasia Registry (ISDR)","Website__c":"https://www.uclahealth.org/ortho/isdr"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1710812","Source__c":"C5235036","Xref__c":"MEDGEN:1710812"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080049","Source__c":"MONDO:0019696","Xref__c":"DOID:0080049"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS602875","Source__c":"MONDO:0019696","Xref__c":"OMIMPS:602875"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5235036","Source__c":"C5235036","Xref__c":"C5235036"},{"URL__c":"https://www.orpha.net/en/disease/detail/93437","Source__c":"C5235036; MONDO:0019696; ORPHA:93437","Xref__c":"ORPHA:93437"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535658","Source__c":"MONDO:0019696","Xref__c":"C535658"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019696","Source__c":"GARD:0000006","Xref__c":"MONDO:0019696"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=279082008","Source__c":"C5235036","Xref__c":"279082008"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["acromesomelic dwarfism"," acromesomelic dysplasia group"," acromesomelic dysplasia syndrome"]}