{"Name":"Craniomicromelic syndrome","DiseaseID__c":"GARD:0001583","id":1583,"encodedName":"craniomicromelic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniomicromelic syndrome","Xref_IDs__c":"725098001; C1865184; C566522; MEDGEN:355396; MONDO:0011253; OMIM:602558; ORPHA:1524","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":2,"Description_Source__c":"MONDO:0011253","Disease_Description__c":"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.","GARD_Name__c":"Craniomicromelic syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0011253","Curated_Disease_Description__c":"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1524","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011253","ORPHANET_ID__c":"ORPHA:1524","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome cráneo-micromélico","Spanish_Description_Source__c":"ORPHA:1524","Spanish_Description__c":"Es un síndrome malformativo de craneosinostosis sindrómico y poco frecuente caracterizado por retraso del crecimiento intrauterino, hipoosificación del cráneo con fontanelas grandes, extremidades cortas con ausencia de falanges y sindactilia en los dedos de las manos y los pies. Las características dismórficas descritas incluyen una cara estrecha con fisuras palpebrales pequeñas, nariz pequeña y puntiaguda, microstomía, micrognatia y orejas de implantación baja y rotadas posteriormente. También se puede observar un encefalocele posterior y otras malformaciones congénitas.","Spanish_Disease_Name__c":"síndrome cráneo-micromélico","Spanish_GARD_Synonym__c":null,"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":"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.","Curated_Disease_Description_Source__c":"MONDO:0011253","Name":"Craniomicromelic syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1524"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1524"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566522","Source__c":"MONDO:0011253","Xref__c":"C566522"},{"URL__c":"https://www.omim.org/entry/602558","Source__c":"C1865184; MONDO:0011253; ORPHA:1524","Xref__c":"OMIM:602558"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865184","Source__c":"C1865184","Xref__c":"C1865184"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355396","Source__c":"C1865184","Xref__c":"MEDGEN:355396"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725098001","Source__c":"C1865184; MONDO:0011253","Xref__c":"725098001"},{"URL__c":"https://www.orpha.net/en/disease/detail/1524","Source__c":"C1865184; MONDO:0011253; ORPHA:1524","Xref__c":"ORPHA:1524"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011253","Source__c":"GARD:0001583","Xref__c":"MONDO:0011253"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":[""]}