{"Name":"Orofaciodigital syndrome 18","DiseaseID__c":"GARD:0022069","id":22069,"encodedName":"orofaciodigital-syndrome-18","IsDeleted":false,"Disease_Name_Full__c":"Orofaciodigital syndrome 18","Xref_IDs__c":"C5567903; DOID:0060961; MEDGEN:1799326; MONDO:0054770; OMIM:617927; ORPHA:508501","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":"ORPHA:508501","Disease_Description__c":"A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.","GARD_Name__c":"Orofaciodigital syndrome 18","GARD_Synonym__c":"ofd18; ofd18 - oral-facial-digital syndrome type 18; ofds 18; ofds xviii; oral-facial-digital syndrome type 18; oral-facial-digital syndrome with short stature and brachymesophalangia; oral-facial-digital syndrome with short stature and brachymesophalangy; oral-facial-digital syndrome, type xviii; orofaciodigital syndrome type 18; orofaciodigital syndrome xviii","Curated_Disease_Description_Source__c":"ORPHA:508501","Curated_Disease_Description__c":"A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:508501","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0054770","ORPHANET_ID__c":"ORPHA:508501","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome orofaciodigital con talla baja y braquimesofalangia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome orofaciodigital con talla baja y braquimesofalangia","Spanish_GARD_Synonym__c":"ofd18; síndrome oral-facial-digital tipo 18; síndrome orofaciodigital tipo 18","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 ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.","Curated_Disease_Description_Source__c":"ORPHA:508501","GARD_Synonym__c":"ofd18; ofd18 - oral-facial-digital syndrome type 18; ofds 18; ofds xviii; oral-facial-digital syndrome type 18; oral-facial-digital syndrome with short stature and brachymesophalangia; oral-facial-digital syndrome with short stature and brachymesophalangy; oral-facial-digital syndrome, type xviii; orofaciodigital syndrome type 18; orofaciodigital syndrome xviii","Name":"Orofaciodigital syndrome 18","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:508501"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567903","Source__c":"C5567903","Xref__c":"C5567903"},{"URL__c":"https://www.omim.org/entry/617927","Source__c":"C5567903; MONDO:0054770; ORPHA:508501","Xref__c":"OMIM:617927"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060961","Source__c":"MONDO:0054770","Xref__c":"DOID:0060961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799326","Source__c":"C5567903","Xref__c":"MEDGEN:1799326"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0054770","Source__c":"GARD:0022069","Xref__c":"MONDO:0054770"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1177179002","Source__c":"C5567903","Xref__c":"1177179002"},{"URL__c":"https://www.orpha.net/en/disease/detail/508501","Source__c":"MONDO:0054770","Xref__c":"ORPHA:508501"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IFT57","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100258","HPO_Synonym__c":"Polydactyly, preaxial","HPO_Name__c":"Preaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"The presence of a forehead that is abnormally small.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000350","HPO_Synonym__c":"Decreased size of forehead; Decreased size of frontal region of face; Small forehead","HPO_Name__c":"Small forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A widely spaced gap between the first toe (the great toe) and the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001852","HPO_Synonym__c":"Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe","HPO_Name__c":"Sandal gap","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","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":"OMIM:617927","Feature__r":{"HPO_Description__c":"Increased space between two adjacent teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000699","HPO_Synonym__c":"Dental diastasis; Dental diastema; Diastasis of the teeth; Diastema of the teeth; Gap between teeth","HPO_Name__c":"Diastema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000191","HPO_Synonym__c":"Accessory oral frenum; Extra oral frenulum; Extra oral frenum; Multiple oral frenula; Supernumerary oral frenulum; Supernumerary oral frenum","HPO_Name__c":"Accessory oral frenulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000321","HPO_Synonym__c":"Square face; Square facial shape; Square facies","HPO_Name__c":"Square face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617927","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000891","HPO_Name__c":"Cervical ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["ofd18"," ofd18 - oral-facial-digital syndrome type 18"," ofds 18"," ofds xviii"," oral-facial-digital syndrome type 18"," oral-facial-digital syndrome with short stature and brachymesophalangia"," oral-facial-digital syndrome with short stature and brachymesophalangy"," oral-facial-digital syndrome, type xviii"," orofaciodigital syndrome type 18"," orofaciodigital syndrome xviii"]}