{"Name":"Lethal Larsen-like syndrome","DiseaseID__c":"GARD:0003181","id":3181,"encodedName":"lethal-larsen-like-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lethal Larsen-like syndrome","Xref_IDs__c":"719409004; C1855535; C537872; MEDGEN:343375; MONDO:0009512; OMIM:245650; ORPHA:2371","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009512","Disease_Description__c":"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.","GARD_Name__c":"Lethal Larsen-like syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0009512","Curated_Disease_Description__c":"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2371","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009512","ORPHANET_ID__c":"ORPHA:2371","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome similar a larsen letal","Spanish_Description_Source__c":"ORPHA:2371","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo con compromiso del tejido conectivo caracterizado por múltiples luxaciones articulares, aplanamiento facial, pliegues palmares anómalos, laringotraqueomalacia e hipoplasia pulmonar. Otros signos adicionales pueden incluir lengua bífida, micrognatia, hidrops fetal no inmunológica y displasia cerebral. La enfermedad es letal poco después del nacimiento debido a una insuficiencia respiratoria.","Spanish_Disease_Name__c":"síndrome similar a larsen letal","Spanish_GARD_Synonym__c":"síndrome de larsen-like letal","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 developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.","Curated_Disease_Description_Source__c":"MONDO:0009512","Name":"Lethal Larsen-like 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":"Little People of America","Website__c":"https://www.lpaonline.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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Neonatal","Provided_By__c":"ORPHA:2371"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537872","Source__c":"MONDO:0009512","Xref__c":"C537872"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343375","Source__c":"C1855535","Xref__c":"MEDGEN:343375"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855535","Source__c":"C1855535","Xref__c":"C1855535"},{"URL__c":"https://www.omim.org/entry/245650","Source__c":"C1855535; MONDO:0009512; ORPHA:2371","Xref__c":"OMIM:245650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719409004","Source__c":"MONDO:0009512","Xref__c":"719409004"},{"URL__c":"https://www.orpha.net/en/disease/detail/2371","Source__c":"C1855535; MONDO:0009512","Xref__c":"ORPHA:2371"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009512","Source__c":"GARD:0003181","Xref__c":"MONDO:0009512"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002779","HPO_Synonym__c":"Floppy windpipe","HPO_Name__c":"Tracheomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Description__c":"Dislocation of many joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012095","HPO_Name__c":"Multiple joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008178","HPO_Name__c":"Abnormal cartilage matrix","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Description__c":"Displacement or malalignment of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001373","HPO_Synonym__c":"Joint dislocation; Joint dislocations","HPO_Name__c":"Joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245650","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":[""]}