{"Name":"Ophthalmomandibulomelic dysplasia","DiseaseID__c":"GARD:0004365","id":4365,"encodedName":"ophthalmomandibulomelic-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Ophthalmomandibulomelic dysplasia","Xref_IDs__c":"715484003; C1833872; C563501; MEDGEN:331604; MONDO:0008127; OMIM:164900; ORPHA:2741","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008127","Disease_Description__c":"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.","GARD_Name__c":"Ophthalmomandibulomelic dysplasia","GARD_Synonym__c":"omm (ophthalmomandibulomelic) syndrome; omm syndrome; pillay syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1833872","Curated_Disease_Description__c":"Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2741","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008127","ORPHANET_ID__c":"ORPHA:2741","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia oftalmo-mandíbulo-mélica","Spanish_Description_Source__c":"ORPHA:2741","Spanish_Description__c":"La displasia oftalmo-mandibulo-mélica está caracterizada por ceguera completa debido a opacidades corneales, masticación dificultosa debido a la fusión temporomandibular y malformaciones en los brazos.","Spanish_Disease_Name__c":"displasia oftalmo-mandíbulo-mélica","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":"Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.","Curated_Disease_Description_Source__c":"MEDGEN:C1833872","GARD_Synonym__c":"omm (ophthalmomandibulomelic) syndrome; omm syndrome; pillay syndrome","Name":"Ophthalmomandibulomelic dysplasia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:2741"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2741","Source__c":"C1833872; MONDO:0008127; ORPHA:2741","Xref__c":"ORPHA:2741"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331604","Source__c":"C1833872","Xref__c":"MEDGEN:331604"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563501","Source__c":"MONDO:0008127","Xref__c":"C563501"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715484003","Source__c":"C1833872; MONDO:0008127","Xref__c":"715484003"},{"URL__c":"https://www.omim.org/entry/164900","Source__c":"C1833872; MONDO:0008127; ORPHA:2741","Xref__c":"OMIM:164900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833872","Source__c":"C1833872","Xref__c":"C1833872"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008127","Source__c":"GARD:0004365","Xref__c":"MONDO:0008127"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002974","HPO_Synonym__c":"Fused forearm bones","HPO_Name__c":"Radioulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006055","HPO_Name__c":"Ulnar deviated club hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005446","HPO_Synonym__c":"High mandibular plane angle; Steep mandibular plane angle","HPO_Name__c":"Obtuse angle of mandible","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006439","HPO_Synonym__c":"Dislocated radioulnar joints","HPO_Name__c":"Radioulnar dislocation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006441","HPO_Name__c":"Lateral humeral condyle aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000485","HPO_Synonym__c":"Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea","HPO_Name__c":"Megalocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004348","HPO_Synonym__c":"Abnormality of bone mineralisation and ossification","HPO_Name__c":"Abnormality of bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012478","HPO_Synonym__c":"Ankylosis of temporomandibular joint; Freezing of jaw joint; Freezing of the temporomandibular joint; Jaw ankylosis; Rigidity of the temporomandibular joint; Temporomandibular joint fusion","HPO_Name__c":"Temporomandibular joint ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2741","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["omm (ophthalmomandibulomelic) syndrome"," omm syndrome"," pillay syndrome"]}