{"Name":"Hemifacial hypertrophy","DiseaseID__c":"GARD:0016971","id":16971,"encodedName":"hemifacial-hypertrophy","IsDeleted":false,"Disease_Name_Full__c":"Hemifacial hypertrophy","Xref_IDs__c":"C1399354; HP:0005323; MEDGEN:452987; MONDO:0007590; OMIM:133900; ORPHA:141145","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":3,"Description_Source__c":"MONDO:0007590","Disease_Description__c":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.","GARD_Name__c":"Hemifacial hypertrophy","GARD_Synonym__c":"enlargement of half of face; facial hemihyperplasia; facial hemihypertophy; facial hemihypertrophy; friedreich's disease; hemifacial enlargement; hemifacial hyperplasia; hypertrophy of half of face; increase in size of half of face; overgrowth of half of face","Curated_Disease_Description_Source__c":"MONDO:0007590","Curated_Disease_Description__c":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:141145","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007590","ORPHANET_ID__c":"ORPHA:141145","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia hemifacial","Spanish_Description_Source__c":"ORPHA:141145","Spanish_Description__c":"Es una anomalía morfológica poco frecuente de la región maxilofacial caracterizada por hipercrecimiento unilateral de todas las estructuras faciales (hueso, tejidos blandos, dientes), denominada hipertrofia hemifacial verdadera, o por un hipercrecimiento de una o más, pero no de todas las estructuras faciales, denominada hipertrofia hemifacial parcial. Puede presentarse de forma aislada o relacionada con otros síndromes (p. ej., Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright, neurofibromatosis tipo 1). Puede estar asociado a obstrucción de las vías respiratorias, pérdida auditiva neurosensorial o dificultades para tragar.","Spanish_Disease_Name__c":"hiperplasia hemifacial","Spanish_GARD_Synonym__c":"hipertrofia hemifacial","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":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.","Curated_Disease_Description_Source__c":"MONDO:0007590","GARD_Synonym__c":"enlargement of half of face; facial hemihyperplasia; facial hemihypertophy; facial hemihypertrophy; friedreich's disease; hemifacial enlargement; hemifacial hyperplasia; hypertrophy of half of face; increase in size of half of face; overgrowth of half of face","Name":"Hemifacial hypertrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Otolaryngology","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:141145"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141145"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:141145"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/133900","Source__c":"C1399354; MONDO:0007590; ORPHA:141145","Xref__c":"OMIM:133900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=452987","Source__c":"C1399354","Xref__c":"MEDGEN:452987"},{"URL__c":"https://www.orpha.net/en/disease/detail/141145","Source__c":"C1399354; MONDO:0007590; ORPHA:141145","Xref__c":"ORPHA:141145"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1399354","Source__c":"C1399354","Xref__c":"C1399354"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005323","Source__c":"C1399354","Xref__c":"HP:0005323"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007590","Source__c":"GARD:0016971","Xref__c":"MONDO:0007590"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=697962004","Source__c":"C1399354","Xref__c":"697962004"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005216","HPO_Synonym__c":"Chewing difficulties; Chewing difficulty; Difficulty chewing","HPO_Name__c":"Impaired mastication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","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:141145","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004411","HPO_Synonym__c":"Crooked nasal septum; Crooked septum of nose; Deviated nasal septum; Deviated septum of nose","HPO_Name__c":"Deviated nasal septum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Unilateral overgrowth of facial tissues, including muscles, bones and skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005323","HPO_Synonym__c":"Enlargement of half of face; Facial hemihypertophy; Hemifacial enlargement; Hypertrophy of half of face; Increase in size of half of face; Overgrowth of half of face","HPO_Name__c":"Hemifacial hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of one half of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100875","HPO_Synonym__c":"Hemiglossal hypertrophy; Hypertrophy of half of the tongue; Increased size of half of the tongue; Large half of tongue","HPO_Name__c":"Hemimacroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001572","HPO_Synonym__c":"Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia","HPO_Name__c":"Macrodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of the skin of vermilion border region of upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012471","HPO_Synonym__c":"Full lips; Increased volume of lip; Increased volume of lip vermillion; Plump lips; Prominent lips; Thick lips","HPO_Name__c":"Thick vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; Pulmonary obstruction","HPO_Name__c":"Airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040264","HPO_Synonym__c":"Jaw pain","HPO_Name__c":"Jaw pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral absence of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009900","HPO_Synonym__c":"Deafness in one ear; Deafness, unilateral","HPO_Name__c":"Unilateral deafness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects one ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025797","HPO_Name__c":"Unilateral sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["enlargement of half of face"," facial hemihyperplasia"," facial hemihypertophy"," facial hemihypertrophy"," friedreich's disease"," hemifacial enlargement"," hemifacial hyperplasia"," hypertrophy of half of face"," increase in size of half of face"," overgrowth of half of face"]}