{"Name":"Microcornea-glaucoma-absent frontal sinuses syndrome","DiseaseID__c":"GARD:0003637","id":3637,"encodedName":"microcornea-glaucoma-absent-frontal-sinuses-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcornea-glaucoma-absent frontal sinuses syndrome","Xref_IDs__c":"C1834935; C537552; MEDGEN:331860; MONDO:0007992; OMIM:156700; ORPHA:2536","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":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007992","Disease_Description__c":"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"Microcornea-glaucoma-absent frontal sinuses syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0007992","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:2536","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007992","ORPHANET_ID__c":"ORPHA:2536","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcórnea-glaucoma-ausencia de senos frontales","Spanish_Description_Source__c":"ORPHA:2536","Spanish_Description__c":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por la asociación de microcórnea, glaucoma e hipoplasia del seno frontal. También se ha descrito piel palmar gruesa y torus palatino. No ha habido más casos descritos en la literatura desde 1995.","Spanish_Disease_Name__c":"síndrome de microcórnea-glaucoma-ausencia de senos frontales","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 rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0007992","Name":"Microcornea-glaucoma-absent frontal sinuses syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2536"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2536"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2536"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834935","Source__c":"C1834935","Xref__c":"C1834935"},{"URL__c":"https://www.orpha.net/en/disease/detail/2536","Source__c":"C1834935; MONDO:0007992","Xref__c":"ORPHA:2536"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537552","Source__c":"MONDO:0007992","Xref__c":"C537552"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331860","Source__c":"C1834935","Xref__c":"MEDGEN:331860"},{"URL__c":"https://www.omim.org/entry/156700","Source__c":"C1834935; MONDO:0007992; ORPHA:2536","Xref__c":"OMIM:156700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007992","Source__c":"GARD:0003637","Xref__c":"MONDO:0007992"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Frequent (30-79%)","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:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000929","HPO_Synonym__c":"Abnormality of the skull","HPO_Name__c":"Abnormal skull morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bony protrusion present on the midline of the hard palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100789","HPO_Synonym__c":"Palatal tori; Palatal torus; Palate exostoses","HPO_Name__c":"Torus palatinus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia of frontal sinus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002688","HPO_Synonym__c":"Absence of frontal sinuses; Absent frontal sinus; Missing frontal sinus","HPO_Name__c":"Absent frontal sinuses","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Pediatrics"],"Account":["Glaucoma"]},"synonyms":[""]}