{"Name":"Gingival fibromatosis-facial dysmorphism syndrome","DiseaseID__c":"GARD:0010528","id":10528,"encodedName":"gingival-fibromatosis-facial-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gingival fibromatosis-facial dysmorphism syndrome","Xref_IDs__c":"C1856761; C565567; MEDGEN:346437; MONDO:0009228; OMIM:228560; ORPHA:2025","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009228","Disease_Description__c":"A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.","GARD_Name__c":"Gingival fibromatosis-facial dysmorphism syndrome","GARD_Synonym__c":"gingival fibromatosis with craniofacial dysmorphism","Curated_Disease_Description_Source__c":"MONDO:0009228","Curated_Disease_Description__c":"A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2025","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009228","ORPHANET_ID__c":"ORPHA:2025","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fibromatosis gingival-dismorfia facial","Spanish_Description_Source__c":"ORPHA:2025","Spanish_Description__c":"Es un síndrome muy poco frecuente caracterizado por la asociación de fibromatosis gingival y dismorfia craneofacial.","Spanish_Disease_Name__c":"síndrome de fibromatosis gingival-dismorfia facial","Spanish_GARD_Synonym__c":null,"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 very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.","Curated_Disease_Description_Source__c":"MONDO:0009228","GARD_Synonym__c":"gingival fibromatosis with craniofacial dysmorphism","Name":"Gingival fibromatosis-facial dysmorphism 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":"Neonatal","Provided_By__c":"ORPHA:2025"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856761","Source__c":"C1856761","Xref__c":"C1856761"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565567","Source__c":"MONDO:0009228","Xref__c":"C565567"},{"URL__c":"https://www.omim.org/entry/228560","Source__c":"C1856761; MONDO:0009228; ORPHA:2025","Xref__c":"OMIM:228560"},{"URL__c":"https://www.orpha.net/en/disease/detail/2025","Source__c":"C1856761; MONDO:0009228","Xref__c":"ORPHA:2025"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346437","Source__c":"C1856761","Xref__c":"MEDGEN:346437"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009228","Source__c":"GARD:0010528","Xref__c":"MONDO:0009228"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000169","HPO_Synonym__c":"Gingival fibroma; Gingival fibrous nodules","HPO_Name__c":"Gingival fibromatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","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:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","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:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","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:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"More pronounced paramedian peaks and median notch of the Cupid's bow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002263","HPO_Synonym__c":"Cupid bow upper lip; Cupid's bow, accentuated; Cupid-bow shaped upper lip; Exaggerated cupid's bow; Prominent cupid-bow of upper lip","HPO_Name__c":"Exaggerated cupid's bow","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["gingival fibromatosis with craniofacial dysmorphism"]}