{"Name":"Cyprus facial-neuromusculoskeletal syndrome","DiseaseID__c":"GARD:0009487","id":9487,"encodedName":"cyprus-facial-neuromusculoskeletal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cyprus facial-neuromusculoskeletal syndrome","Xref_IDs__c":"732261005; C1852396; C536229; MEDGEN:343800; MONDO:0007413; OMIM:123853; ORPHA:2674","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007413","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992.","GARD_Name__c":"Cyprus facial-neuromusculoskeletal syndrome","GARD_Synonym__c":"cyprus facial neuromusculoskeletal syndrome","Curated_Disease_Description_Source__c":"MONDO:0007413","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further descriptions in the literature since 1992.","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:2674","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007413","ORPHANET_ID__c":"ORPHA:2674","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome neuromusculoesquelético facial de chipre","Spanish_Description_Source__c":"ORPHA:2674","Spanish_Description__c":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por una apariencia facial específica (que incluye un pliegue cutáneo triangular, engrosado y con crestas que se extiende desde la glabela hasta la fontanela anterior, elevación bilateral de la porción medial de las cejas, hipertelorismo, orejas de implantación baja rotadas posteriormente y pico de viuda), deformidades esqueléticas variables y defectos neuromusculares y sensitivos, que pueden resultar discapacitantes en algunos individuos. Las características descritas incluyen atrofia muscular de las extremidades, cifoescoliosis congénita, luxación de la cadera, talipes equinovaro congénito, artrogriposis, rigidez/anquilosis de las articulaciones, ptosis y cataratas. La capacidad intelectual es normal. No se han descrito más casos en la literaura científica desde 1992.","Spanish_Disease_Name__c":"síndrome neuromusculoesquelético facial de chipre","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 multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"MONDO:0007413","GARD_Synonym__c":"cyprus facial neuromusculoskeletal syndrome","Name":"Cyprus facial-neuromusculoskeletal 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2674"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2674"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732261005","Source__c":"C1852396; MONDO:0007413","Xref__c":"732261005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343800","Source__c":"C1852396","Xref__c":"MEDGEN:343800"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852396","Source__c":"C1852396","Xref__c":"C1852396"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536229","Source__c":"MONDO:0007413","Xref__c":"C536229"},{"URL__c":"https://www.orpha.net/en/disease/detail/2674","Source__c":"C1852396; MONDO:0007413; ORPHA:2674","Xref__c":"ORPHA:2674"},{"URL__c":"https://www.omim.org/entry/123853","Source__c":"C1852396; MONDO:0007413; ORPHA:2674","Xref__c":"OMIM:123853"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007413","Source__c":"GARD:0009487","Xref__c":"MONDO:0007413"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Anterior segment of Eye","Neuromuscular medicine","Pediatrics"]},"synonyms":["cyprus facial neuromusculoskeletal syndrome"]}