{"Name":"Cardiospondylocarpofacial syndrome","DiseaseID__c":"GARD:0002362","id":2362,"encodedName":"cardiospondylocarpofacial-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cardiospondylocarpofacial syndrome","Xref_IDs__c":"720612000; C188216; C2931461; C563572; MEDGEN:444060; MONDO:0008005; OMIM:157800; ORPHA:3238","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":1,"Description_Source__c":"MONDO:0008005","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.","GARD_Name__c":"Cardiospondylocarpofacial syndrome","GARD_Synonym__c":"cscf; forney robinson pascoe syndrome; forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation with deafness and skeletal anomalies syndrome; mitral regurgitation-deafness-skeletal anomalies syndrome; mitral regurgitation-hearing loss-skeletal anomalies syndrome","Curated_Disease_Description_Source__c":"MONDO:0008005","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3238","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008005","ORPHANET_ID__c":"ORPHA:3238","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome cardio-espondilo-carpo-facial","Spanish_Description_Source__c":"ORPHA:3238","Spanish_Description__c":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente caracterizado por retraso del crecimiento, talla baja, dificultad para alimentarse, fallo de medro y anomalías cardíacas (defectos del tabique y/o displasia valvular), laxitud articular, acortamiento de las extremidades, braquidactilia, fusión carpiana, tarsal y de las vértebras cervicales, malformación del oído interno con hipoacusia conductiva bilateral y rasgos faciales dismórficos (como hipertelorismo, fisuras palpebrales ascendentes, orejas rotadas posteriormente, narinas antevertidas y filtrum largo). Otras manifestaciones variables son reflujo gastroesofágico y anomalías genitourinarias, entre otras.","Spanish_Disease_Name__c":"síndrome cardio-espondilo-carpo-facial","Spanish_GARD_Synonym__c":"síndrome de forney; síndrome de forney-robinson-pascoe; síndrome de insuficiencia mitral-hipoacusia-anomalías esqueléticas; síndrome de insuficiencia mitral-sordera-anomalías esqueléticas","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 genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.","Curated_Disease_Description_Source__c":"MONDO:0008005","GARD_Synonym__c":"cscf; forney robinson pascoe syndrome; forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation with deafness and skeletal anomalies syndrome; mitral regurgitation-deafness-skeletal anomalies syndrome; mitral regurgitation-hearing loss-skeletal anomalies syndrome","Name":"Cardiospondylocarpofacial syndrome","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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3238"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002362","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C188216","Source__c":"C2931461; MONDO:0008005","Xref__c":"C188216"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931461","Source__c":"C2931461","Xref__c":"C2931461"},{"URL__c":"https://www.orpha.net/en/disease/detail/3238","Source__c":"C2931461; MONDO:0008005; ORPHA:3238","Xref__c":"ORPHA:3238"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720612000","Source__c":"C2931461; MONDO:0008005","Xref__c":"720612000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563572","Source__c":"MONDO:0008005","Xref__c":"C563572"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444060","Source__c":"C2931461","Xref__c":"MEDGEN:444060"},{"URL__c":"https://www.omim.org/entry/157800","Source__c":"C2931461; MONDO:0008005; ORPHA:3238","Xref__c":"OMIM:157800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008005","Source__c":"GARD:0002362","Xref__c":"MONDO:0008005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAP3K7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of tooth eruption of the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006352","HPO_Synonym__c":"Failure of eruption of adult teeth","HPO_Name__c":"Failure of eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","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:3238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000692","HPO_Synonym__c":"Abnormal dental position; Abnormal teeth spacing; Abnormality of alignment of teeth; Abnormality of teeth spacing; Crooked teeth; Malaligned teeth; Malposition of teeth; Malpositioned teeth; Misalignment of teeth; Teeth, malposition","HPO_Name__c":"Tooth malposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["cscf"," forney robinson pascoe syndrome"," forney syndrome"," forney-robinson-pascoe syndrome"," mitral regurgitation with deafness and skeletal anomalies syndrome"," mitral regurgitation-deafness-skeletal anomalies syndrome"," mitral regurgitation-hearing loss-skeletal anomalies syndrome"]}