{"Name":"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","DiseaseID__c":"GARD:0005027","id":5027,"encodedName":"non-eruption-of-teeth-maxillary-hypoplasia-genu-valgum-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","Xref_IDs__c":"723442008; C1848903; MEDGEN:341331; MONDO:0010104; OMIM:273050; ORPHA:2972","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010104","Disease_Description__c":"Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears.","GARD_Name__c":"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","GARD_Synonym__c":"multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects; stoelinga-de koomen-davis syndrome","Curated_Disease_Description_Source__c":"MONDO:0010104","Curated_Disease_Description__c":"Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2972","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010104","ORPHANET_ID__c":"ORPHA:2972","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fracaso de la erupción dentaria-hipoplasia maxilar-genu valgum","Spanish_Description_Source__c":"ORPHA:2972","Spanish_Description__c":"La no erupción de los dientes con hipoplasia maxilar y <i>genu valgum</i> es un síndrome extremadamente raro que se caracteriza por la no erupción de múltiples dientes permanentes, hipoplasia del proceso alveolar y de la región máxilo-cigomática, <i>genu valgum</i> grave y orejas deformes.","Spanish_Disease_Name__c":"síndrome de fracaso de la erupción dentaria-hipoplasia maxilar-genu valgum","Spanish_GARD_Synonym__c":"síndrome de stoelinga-de koomen-davis","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":"Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.","Curated_Disease_Description_Source__c":"MONDO:0010104","GARD_Synonym__c":"multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects; stoelinga-de koomen-davis syndrome","Name":"Non-eruption of teeth-maxillary hypoplasia-genu valgum 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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2972"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723442008","Source__c":"MONDO:0010104","Xref__c":"723442008"},{"URL__c":"https://www.omim.org/entry/273050","Source__c":"C1848903; MONDO:0010104; ORPHA:2972","Xref__c":"OMIM:273050"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848903","Source__c":"C1848903","Xref__c":"C1848903"},{"URL__c":"https://www.orpha.net/en/disease/detail/2972","Source__c":"C1848903; MONDO:0010104","Xref__c":"ORPHA:2972"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341331","Source__c":"C1848903","Xref__c":"MEDGEN:341331"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010104","Source__c":"GARD:0005027","Xref__c":"MONDO:0010104"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the alveolar process (also known as alveolar bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006329","HPO_Synonym__c":"Decreased size of alveolar process of jaw; Decreased size of alveolar ridge; Hypoplasia of alveolar ridge; Hypoplastic alveolar bone; Small alveolar process of jaw; Small alveolar ridge; Underdevelopment of alveolar process of jaw; Underdevelopment of alveolar ridge","HPO_Name__c":"Alveolar process hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the maxillozygomatic complex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005439","HPO_Synonym__c":"Decreased size of zygomaticomaxillary bone complex; Deficiency of zygomaticomaxillary bone complex; Hypoplasia of malar bone complex; Hypoplasia of zygomaticomaxillary complex; Underdevelopment of zygomaticomaxillary bone complex","HPO_Name__c":"Maxillozygomatic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2972","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects"," stoelinga-de koomen-davis syndrome"]}