{"Name":"Binder syndrome","DiseaseID__c":"GARD:0006992","id":6992,"encodedName":"binder-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Binder syndrome","Xref_IDs__c":"715985008; C0220692; C536036; DOID:14683; MEDGEN:66318; MONDO:0007953; OMIM:155050; ORPHA:1248","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007953","Disease_Description__c":"A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.","GARD_Name__c":"Binder syndrome","GARD_Synonym__c":"binder type maxillonasal dysplasia; maxillonasal dysostosis; maxillonasal dysplasia; maxillonasal dysplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0007953","Curated_Disease_Description__c":"A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1248","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007953","ORPHANET_ID__c":"ORPHA:1248","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia maxilonasal","Spanish_Description_Source__c":"ORPHA:1248","Spanish_Description__c":"El síndrome de Binder es una anomalia del desarrollo muy poco frecuente, que afecta principalmente a la parte anterior del complejo maxilar y nasal.","Spanish_Disease_Name__c":"displasia maxilonasal","Spanish_GARD_Synonym__c":"síndrome de binder","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 developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.","Curated_Disease_Description_Source__c":"MONDO:0007953","GARD_Synonym__c":"binder type maxillonasal dysplasia; maxillonasal dysostosis; maxillonasal dysplasia; maxillonasal dysplasia syndrome","Name":"Binder syndrome","estimateUsa":""}],"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:1248"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220692","Source__c":"C0220692","Xref__c":"C0220692"},{"URL__c":"https://www.omim.org/entry/155050","Source__c":"C0220692; MONDO:0007953; ORPHA:1248","Xref__c":"OMIM:155050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715985008","Source__c":"C0220692; MONDO:0007953","Xref__c":"715985008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536036","Source__c":"MONDO:0007953","Xref__c":"C536036"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14683","Source__c":"MONDO:0007953","Xref__c":"DOID:14683"},{"URL__c":"https://www.orpha.net/en/disease/detail/1248","Source__c":"C0220692; MONDO:0007953; ORPHA:1248","Xref__c":"ORPHA:1248"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66318","Source__c":"C0220692","Xref__c":"MEDGEN:66318"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007953","Source__c":"GARD:0006992","Xref__c":"MONDO:0007953"}],"Inheritance__c":["Non-Mendelian inheritance","Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visible space between the dental arches in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010807","HPO_Synonym__c":"Absence of overlap of upper and lower teeth; Open bite; Open bite between upper and lower teeth","HPO_Name__c":"Open bite","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004609","HPO_Name__c":"Patchy distortion of vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008428","HPO_Synonym__c":"Vertebral clefts","HPO_Name__c":"Vertebral clefting","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin K in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011892","HPO_Synonym__c":"Low levels of vitamin K","HPO_Name__c":"Decreased circulating vitamin K concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001065","HPO_Synonym__c":"Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae","HPO_Name__c":"Striae distensae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the nostril.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005288","HPO_Synonym__c":"Abnormal naris morphology; Abnormality of the nares; Abnormality of the nostrils; Anomaly of the nares","HPO_Name__c":"Abnormal nostril morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced distance from the anterior border of the naris to the subnasale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002000","HPO_Synonym__c":"Columella, short; Decreased length of columella","HPO_Name__c":"Short columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the distal phalanges of the toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010185","HPO_Synonym__c":"Absent/hypoplastic terminal phalanges of toes; Absent/small outermost bones of toe; Absent/underdeveloped outermost bones of toe","HPO_Name__c":"Aplasia/Hypoplasia of the distal phalanges of the toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["binder type maxillonasal dysplasia"," maxillonasal dysostosis"," maxillonasal dysplasia"," maxillonasal dysplasia syndrome"]}