{"Name":"Intrauterine growth retardation with increased mitomycin c sensitivity","DiseaseID__c":"GARD:0005593","id":5593,"encodedName":"intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity","IsDeleted":false,"Disease_Name_Full__c":"Intrauterine growth retardation with increased mitomycin c sensitivity","Xref_IDs__c":"C2931307; C536744; MEDGEN:419040; MONDO:0010900; OMIM:600546","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:600546","Disease_Description__c":"{4:Woods et al. (1995)} reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. {4:Woods et al. (1995)} proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication ({2:Seckel, 1960}). Other cases were reported by {3:Upjohn (1955)} and {1:Butler et al. (1987)}. Because Seckel syndrome is likely to be heterogeneous, {4:Woods et al. (1995)} preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'","GARD_Name__c":"Intrauterine growth retardation with increased mitomycin c sensitivity","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Intrauterine growth restriction with increased mitomycin c sensitivity is a rare condition that affects growth and development in babies. Babies with this condition have a small head and body, and may have a distinctive face. They may also experience developmental delays. In some cases, babies with this condition may develop pancytopenia, a condition where the body has low levels of red and white blood cells and platelets. Doctors have found that babies with this condition have an increased sensitivity to a drug called mitomycin C, which can cause damage to their chromosomes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600546","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010900","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Intrauterine growth restriction with increased mitomycin c sensitivity is a rare condition that affects growth and development in babies. Babies with this condition have a small head and body, and may have a distinctive face. They may also experience developmental delays. In some cases, babies with this condition may develop pancytopenia, a condition where the body has low levels of red and white blood cells and platelets. Doctors have found that babies with this condition have an increased sensitivity to a drug called mitomycin C, which can cause damage to their chromosomes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Intrauterine growth retardation with increased mitomycin c sensitivity","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536744","Source__c":"MONDO:0010900","Xref__c":"C536744"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931307","Source__c":"C2931307","Xref__c":"C2931307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419040","Source__c":"C2931307","Xref__c":"MEDGEN:419040"},{"URL__c":"https://www.omim.org/entry/600546","Source__c":"C2931307; MONDO:0010900","Xref__c":"OMIM:600546"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010900","Source__c":"GARD:0005593","Xref__c":"MONDO:0010900"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003220","HPO_Name__c":"Abnormality of chromosome stability","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600546","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}