{"Name":"PARC syndrome","DiseaseID__c":"GARD:0004223","id":4223,"encodedName":"parc-syndrome","IsDeleted":false,"Disease_Name_Full__c":"PARC syndrome","Xref_IDs__c":"C1838256; C537174; MEDGEN:373923; MONDO:0010867; OMIM:600331; ORPHA:2825","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010867","Disease_Description__c":"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.","GARD_Name__c":"PARC syndrome","GARD_Synonym__c":"parc (poikiloderma, alopecia, retrognathism, cleft palate) syndrome; poikiloderma-alopecia-retrognathism-cleft palate syndrome; poikiloderma, alopecia, retrognathism, and cleft palate; poikiloderma, alopecia, retrognathism, cleft palate syndrome","Curated_Disease_Description_Source__c":"MONDO:0010867","Curated_Disease_Description__c":"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2825","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010867","ORPHANET_ID__c":"ORPHA:2825","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome parc","Spanish_Description_Source__c":"ORPHA:2825","Spanish_Description__c":"Es un síndrome por defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por la asociación de poiquilodermia congénita, alopecia generalizada, retrognatismo y paladar hendido. No se han descrito más casos en la literatura desde 1990.","Spanish_Disease_Name__c":"síndrome parc","Spanish_GARD_Synonym__c":"síndrome de poiquilodermia-alopecia-retrognatia-paladar hendido","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":"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.","Curated_Disease_Description_Source__c":"MONDO:0010867","GARD_Synonym__c":"parc (poikiloderma, alopecia, retrognathism, cleft palate) syndrome; poikiloderma-alopecia-retrognathism-cleft palate syndrome; poikiloderma, alopecia, retrognathism, and cleft palate; poikiloderma, alopecia, retrognathism, cleft palate syndrome","Name":"PARC 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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2825"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2825"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537174","Source__c":"MONDO:0010867","Xref__c":"C537174"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838256","Source__c":"C1838256","Xref__c":"C1838256"},{"URL__c":"https://www.orpha.net/en/disease/detail/2825","Source__c":"C1838256; MONDO:0010867; ORPHA:2825","Xref__c":"ORPHA:2825"},{"URL__c":"https://www.omim.org/entry/600331","Source__c":"C1838256; MONDO:0010867; ORPHA:2825","Xref__c":"OMIM:600331"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373923","Source__c":"C1838256","Xref__c":"MEDGEN:373923"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010867","Source__c":"GARD:0004223","Xref__c":"MONDO:0010867"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771186004","Source__c":"C1838256","Xref__c":"771186004"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001029","HPO_Name__c":"Poikiloderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000561","HPO_Synonym__c":"Absent eyelashes; Atrichia of eyelashes; Failure of development of eyelashes","HPO_Name__c":"Absent eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000308","HPO_Synonym__c":"Retromicrognathia; Small retruded chin","HPO_Name__c":"Microretrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002223","HPO_Synonym__c":"Absent eyebrow; Absent eyebrows; Failure of development of eyebrows","HPO_Name__c":"Absent eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["parc (poikiloderma, alopecia, retrognathism, cleft palate) syndrome"," poikiloderma-alopecia-retrognathism-cleft palate syndrome"," poikiloderma, alopecia, retrognathism, and cleft palate"," poikiloderma, alopecia, retrognathism, cleft palate syndrome"]}