{"Name":"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth","DiseaseID__c":"GARD:0010066","id":10066,"encodedName":"metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth","Xref_IDs__c":"C1837316; C537355; MEDGEN:373306; MONDO:0012131; OMIM:608811; ORPHA:498485","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:498485","Disease_Description__c":"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.","GARD_Name__c":"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth","GARD_Synonym__c":"overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome; overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is a rare condition that affects the bones and causes overgrowth either before or after birth. It can cause children to grow taller or faster than usual. The condition can also cause the bones in the skull to grow too much, and the bones in the spine to develop abnormally. This syndrome can also lead to underdeveloped bones in the arms and legs. People with this condition may have some facial differences, such as wide-set eyes, a flat nose bridge, and a full lower lip. Some people with this condition may also have a curved spine, delayed puberty, undescended testicles, and an abnormal opening of the urethra.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:498485","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012131","ORPHANET_ID__c":"ORPHA:498485","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sobrecrecimiento-defecto de modelado metafisario-displasia espondilar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de sobrecrecimiento-defecto de modelado metafisario-displasia espondilar","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":"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is a rare condition that affects the bones and causes overgrowth either before or after birth. It can cause children to grow taller or faster than usual. The condition can also cause the bones in the skull to grow too much, and the bones in the spine to develop abnormally. This syndrome can also lead to underdeveloped bones in the arms and legs. People with this condition may have some facial differences, such as wide-set eyes, a flat nose bridge, and a full lower lip. Some people with this condition may also have a curved spine, delayed puberty, undescended testicles, and an abnormal opening of the urethra.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome; overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome","Name":"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:498485"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:498485"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373306","Source__c":"C1837316","Xref__c":"MEDGEN:373306"},{"URL__c":"https://www.orpha.net/en/disease/detail/498485","Source__c":"C1837316; MONDO:0012131; ORPHA:498485","Xref__c":"ORPHA:498485"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837316","Source__c":"C1837316","Xref__c":"C1837316"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537355","Source__c":"MONDO:0012131","Xref__c":"C537355"},{"URL__c":"https://www.omim.org/entry/608811","Source__c":"C1837316; MONDO:0012131; ORPHA:498485","Xref__c":"OMIM:608811"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1169363004","Source__c":"C1837316","Xref__c":"1169363004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012131","Source__c":"GARD:0010066","Xref__c":"MONDO:0012131"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"," overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome"]}