{"Name":"Lethal congenital contracture syndrome 2","DiseaseID__c":"GARD:0009177","id":9177,"encodedName":"lethal-congenital-contracture-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Lethal congenital contracture syndrome 2","Xref_IDs__c":"715419004; C1843478; C564369; DOID:0060560; MEDGEN:334413; MONDO:0011868; OMIM:607598; ORPHA:137776","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":2,"Description_Source__c":"MONDO:0011868","Disease_Description__c":"Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.","GARD_Name__c":"Lethal congenital contracture syndrome 2","GARD_Synonym__c":"erbb3 lethal congenital contracture syndrome; lccs2; lethal congenital contractural syndrome 2; lethal congenital contracture syndrome caused by mutation in erbb3; lethal congenital contracture syndrome type 2; multiple contracture syndrome israeli-bedouin type; multiple contracture syndrome, israeli bedouin type a; multiple contracture syndrome, israeli-bedouin type","Curated_Disease_Description_Source__c":"MONDO:0011868","Curated_Disease_Description__c":"Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.","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:137776","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011868","ORPHANET_ID__c":"ORPHA:137776","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de contractura letal congénita tipo 2","Spanish_Description_Source__c":"ORPHA:137776","Spanish_Description__c":"El síndrome de contractura letal congénita tipo 2 es un síndrome de artrogriposis poco frecuente, caracterizado por contracturas congénitas múltiples (típicamente, codos extendidos y rodillas flexionadas), micrognatia, degeneración de las células del asta anterior, atrofia musculoesquelética (principalmente de miembros inferiores), presencia de una vejiga urinaria notablemente distendida y ausencia de hidropesía, pterigión y fracturas óseas. Además, se pueden observar otras anomalías craneofaciales (p. ej., paladar hendido, parálisis facial) y oculares (p. ej., anisocoria, desprendimiento de retina). La enfermedad suele resultar en fallecimiento en el periodo neonatal, aunque se ha notificado supervivencia en la adolescencia.","Spanish_Disease_Name__c":"síndrome de contractura letal congénita tipo 2","Spanish_GARD_Synonym__c":"lccs2; síndrome de contractura múltiple tipo israeli-bedouin","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":"Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.","Curated_Disease_Description_Source__c":"MONDO:0011868","GARD_Synonym__c":"erbb3 lethal congenital contracture syndrome; lccs2; lethal congenital contractural syndrome 2; lethal congenital contracture syndrome caused by mutation in erbb3; lethal congenital contracture syndrome type 2; multiple contracture syndrome israeli-bedouin type; multiple contracture syndrome, israeli bedouin type a; multiple contracture syndrome, israeli-bedouin type","Name":"Lethal congenital contracture syndrome 2","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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137776"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:137776"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843478"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009177","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334413","Source__c":"C1843478","Xref__c":"MEDGEN:334413"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715419004","Source__c":"C1843478; MONDO:0011868","Xref__c":"715419004"},{"URL__c":"https://www.omim.org/entry/607598","Source__c":"C1843478; MONDO:0011868; ORPHA:137776","Xref__c":"OMIM:607598"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060560","Source__c":"MONDO:0011868","Xref__c":"DOID:0060560"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843478","Source__c":"C1843478","Xref__c":"C1843478"},{"URL__c":"https://www.orpha.net/en/disease/detail/137776","Source__c":"C1843478; MONDO:0011868; ORPHA:137776","Xref__c":"ORPHA:137776"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564369","Source__c":"MONDO:0011868","Xref__c":"C564369"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011868","Source__c":"GARD:0009177","Xref__c":"MONDO:0011868"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ERBB3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007964","HPO_Name__c":"Degenerative vitreoretinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002304","HPO_Name__c":"Akinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607598","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["erbb3 lethal congenital contracture syndrome"," lccs2"," lethal congenital contractural syndrome 2"," lethal congenital contracture syndrome caused by mutation in erbb3"," lethal congenital contracture syndrome type 2"," multiple contracture syndrome israeli-bedouin type"," multiple contracture syndrome, israeli bedouin type a"," multiple contracture syndrome, israeli-bedouin type"]}