{"Name":"Brachyolmia - Maroteaux type","DiseaseID__c":"GARD:0016816","id":16816,"encodedName":"brachyolmia-maroteaux-type","IsDeleted":false,"Disease_Name_Full__c":"Brachyolmia - Maroteaux type","Xref_IDs__c":"389165004; C5399913; MEDGEN:1777254; MONDO:0013360; OMIM:613678; ORPHA:93302","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013360","Disease_Description__c":"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.","GARD_Name__c":"Brachyolmia - Maroteaux type","GARD_Synonym__c":"bcym2; brachyolmia type 2; brachyolmia, maroteaux type","Curated_Disease_Description_Source__c":"ORPHA:93302","Curated_Disease_Description__c":"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93302","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013360","ORPHANET_ID__c":"ORPHA:93302","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquiolmia tipo 2","Spanish_Description_Source__c":"ORPHA:93302","Spanish_Description__c":"Es una displasia espondilodisplásica poco frecuente de origen genético caracterizada por tronco corto/ talla baja, platispondilia generalizada con redondeo de los cuerpos vertebrales. Los cuerpos vertebrales muestran menor elongación en comparación con pacientes con otros tipos del trastorno. Puede asociar calcificación precoz de la hoz cerebral y anomalías faciales menores inespecíficas. No se han descrito nuevos casos desde 1989.","Spanish_Disease_Name__c":"braquiolmia tipo 2","Spanish_GARD_Synonym__c":"braquiolmia tipo maroteaux","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 genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated.","Curated_Disease_Description_Source__c":"ORPHA:93302","GARD_Synonym__c":"bcym2; brachyolmia type 2; brachyolmia, maroteaux type","Name":"Brachyolmia - Maroteaux type","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":"Childhood","Provided_By__c":"ORPHA:93302"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93302","Source__c":"C5399913; MONDO:0013360; ORPHA:93302","Xref__c":"ORPHA:93302"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5399913","Source__c":"C5399913","Xref__c":"C5399913"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1777254","Source__c":"C5399913","Xref__c":"MEDGEN:1777254"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389165004","Source__c":"C5399913; MONDO:0013360","Xref__c":"389165004"},{"URL__c":"https://www.omim.org/entry/613678","Source__c":"C5399913; MONDO:0013360; ORPHA:93302","Xref__c":"OMIM:613678"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013360","Source__c":"GARD:0016816","Xref__c":"MONDO:0013360"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","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:93302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the Falx cerebri.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010653","HPO_Synonym__c":"Abnormality of the cerebral falx","HPO_Name__c":"Abnormality of the falx cerebri","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93302","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["bcym2"," brachyolmia type 2"," brachyolmia, maroteaux type"]}