{"Name":"Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome","DiseaseID__c":"GARD:0000938","id":938,"encodedName":"uncombable-hair-retinal-pigmentary-dystrophy-dental-anomaly-and-brachydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome","Xref_IDs__c":"719910004; C1860605; C536576; MEDGEN:348658; MONDO:0008622; OMIM:191482; ORPHA:1264","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008622","Disease_Description__c":"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.","GARD_Name__c":"Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome","GARD_Synonym__c":"bork syndrome; tricho-retino-dento-digital syndrome; uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome; uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly","Curated_Disease_Description_Source__c":"MEDGEN:C1860605","Curated_Disease_Description__c":"An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1264","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008622","ORPHANET_ID__c":"ORPHA:1264","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome trico-retino-dento-digital","Spanish_Description_Source__c":"ORPHA:1264","Spanish_Description__c":"El síndrome trico-retino-dento-digital es un síndrome de displasia ectodérmica autosómica dominante, que se caracteriza por un síndrome de cabello impeinable (consulte este término), hipotricosis congénita y anomalías dentales como oligodoncia (consulte este término) o hiperdoncia, y asociado con catarata de aparición precoz, distrofia pigmentaria retiniana y braquidactilia con braquimetacarpia. Además, se ha informado de hiperactividad y un déficit intelectual leve en pacientes afectados.","Spanish_Disease_Name__c":"síndrome trico-retino-dento-digital","Spanish_GARD_Synonym__c":"cabello impeinable-distrofia pigmentaria retiniana-anomalías dentales-braquidactilia; síndrome de bork","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":"An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.","Curated_Disease_Description_Source__c":"MEDGEN:C1860605","GARD_Synonym__c":"bork syndrome; tricho-retino-dento-digital syndrome; uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome; uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly","Name":"Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1264"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1264","Source__c":"C1860605; MONDO:0008622; ORPHA:1264","Xref__c":"ORPHA:1264"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860605","Source__c":"C1860605","Xref__c":"C1860605"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348658","Source__c":"C1860605","Xref__c":"MEDGEN:348658"},{"URL__c":"https://www.omim.org/entry/191482","Source__c":"C1860605; MONDO:0008622; ORPHA:1264","Xref__c":"OMIM:191482"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536576","Source__c":"MONDO:0008622","Xref__c":"C536576"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719910004","Source__c":"C1860605; MONDO:0008622","Xref__c":"719910004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008622","Source__c":"GARD:0000938","Xref__c":"MONDO:0008622"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","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"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cataract that is not apparent at birth but that arises in childhood or adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001118","HPO_Name__c":"Juvenile cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1264","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is disorderly, stands out from the scalp, and cannot be combed flat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030056","HPO_Synonym__c":"Uncombable hair","HPO_Name__c":"Uncombable hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Retinal","Ectodermal dysplasia"]},"synonyms":["bork syndrome"," tricho-retino-dento-digital syndrome"," uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"," uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly"]}