{"Name":"Tall stature-scoliosis-macrodactyly of the great toes syndrome","DiseaseID__c":"GARD:0017495","id":17495,"encodedName":"tall-stature-scoliosis-macrodactyly-of-the-great-toes-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tall stature-scoliosis-macrodactyly of the great toes syndrome","Xref_IDs__c":"C4014690; DOID:0070316; MEDGEN:863127; MONDO:0014401; OMIM:615923; ORPHA:329191","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014401","Disease_Description__c":"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.","GARD_Name__c":"Tall stature-scoliosis-macrodactyly of the great toes syndrome","GARD_Synonym__c":"epiphyseal chondrodysplasia, miura type; tall stature-long halluces-multiple extra-epiphyses syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome","Curated_Disease_Description_Source__c":"ORPHA:329191","Curated_Disease_Description__c":"Tall stature-long halluces-multiple extra-epiphyses syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:329191","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014401","ORPHANET_ID__c":"ORPHA:329191","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de talla alta-dedos gordos del pie largos-extra-epífisis múltiple","Spanish_Description_Source__c":"ORPHA:329191","Spanish_Description__c":"Es un síndrome genético poco frecuente de sobrecrecimiento, o de talla alta, con afectación esquelética. Está caracterizado por sobrecrecimiento temprano y proporcionado, osteopenia, escoliosis lumbar, aracnodactilia de manos y pies, macrodactilia del primer dedo del pie, coxa valga con displasia epifisaria de las epífisis de la cabeza femoral y predisposición al deslizamiento de la epífisis capital femoral.","Spanish_Disease_Name__c":"síndrome de talla alta-dedos gordos del pie largos-extra-epífisis múltiple","Spanish_GARD_Synonym__c":"síndrome de talla alta-escoliosis-macrodactilia de los dedos gordos del pie; síndrome de talla alta-halluces largos-extra-epífisis múltiple","Category_Linearization__c":"ORPHA:93890","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":"Tall stature-long halluces-multiple extra-epiphyses syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.","Curated_Disease_Description_Source__c":"ORPHA:329191","GARD_Synonym__c":"epiphyseal chondrodysplasia, miura type; tall stature-long halluces-multiple extra-epiphyses syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome","Name":"Tall stature-scoliosis-macrodactyly of the great toes syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Growth Foundation","Website__c":"https://childgrowthfoundation.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:329191"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014690","Source__c":"C4014690","Xref__c":"C4014690"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070316","Source__c":"MONDO:0014401","Xref__c":"DOID:0070316"},{"URL__c":"https://www.omim.org/entry/615923","Source__c":"C4014690; MONDO:0014401; ORPHA:329191","Xref__c":"OMIM:615923"},{"URL__c":"https://www.orpha.net/en/disease/detail/329191","Source__c":"C4014690; MONDO:0014401","Xref__c":"ORPHA:329191"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863127","Source__c":"C4014690","Xref__c":"MEDGEN:863127"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014401","Source__c":"GARD:0017495","Xref__c":"MONDO:0014401"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NPR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615923","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002656","HPO_Synonym__c":"Abnormal development of the ends of long bones in arms and legs","HPO_Name__c":"Epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032208","HPO_Synonym__c":"Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine; Increased urine NTx level","HPO_Name__c":"Increased urinary type 1 collagen N-terminal telopeptide level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010639","HPO_Synonym__c":"Elevated alkaline phosphatase of bone origin; Elevated ALP of bone origin; Increased serum bone-specific alkaline phosphatase","HPO_Name__c":"Elevated alkaline phosphatase of bone origin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031424","HPO_Synonym__c":"Abnormal circulating beta-C-terminal telopeptide level; Abnormal circulating beta-CrossLaps level; Abnormal circulating beta-CTx level","HPO_Name__c":"Abnormal circulating beta-CTX concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005769","HPO_Name__c":"Fifth finger distal phalanx clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","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":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased length of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001847","HPO_Synonym__c":"Increased length of the hallux; Large halluces; Long big toe; Long halluces","HPO_Name__c":"Long hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["epiphyseal chondrodysplasia, miura type"," tall stature-long halluces-multiple extra-epiphyses syndrome"," tall stature-scoliosis-macrodactyly of the halluces syndrome"]}