{"Name":"Cerebrooculonasal syndrome","DiseaseID__c":"GARD:0003480","id":3480,"encodedName":"cerebrooculonasal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cerebrooculonasal syndrome","Xref_IDs__c":"720855003; C1854108; C565313; MEDGEN:340138; MONDO:0011575; OMIM:605627; ORPHA:66625","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011575","Disease_Description__c":"Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.","GARD_Name__c":"Cerebrooculonasal syndrome","GARD_Synonym__c":"cerebro-oculo-nasal syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1854108","Curated_Disease_Description__c":"A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:66625","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011575","ORPHANET_ID__c":"ORPHA:66625","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome cerebro-óculo-nasal","Spanish_Description_Source__c":"ORPHA:66625","Spanish_Description__c":"El síndrome cerebro-óculo-nasal es un síndrome de malformación multisistémica que ha sido descrito en 10 pacientes. Las características clínicas incluyen anoftalmia bilateral, fosas nasales anómalas, anomalías del sistema nervioso central y retraso psicomotor.","Spanish_Disease_Name__c":"síndrome cerebro-óculo-nasal","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 multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.","Curated_Disease_Description_Source__c":"MEDGEN:C1854108","GARD_Synonym__c":"cerebro-oculo-nasal syndrome","Name":"Cerebrooculonasal 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:66625"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:66625"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854108"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720855003","Source__c":"C1854108; MONDO:0011575","Xref__c":"720855003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340138","Source__c":"C1854108","Xref__c":"MEDGEN:340138"},{"URL__c":"https://www.omim.org/entry/605627","Source__c":"C1854108; MONDO:0011575; ORPHA:66625","Xref__c":"OMIM:605627"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565313","Source__c":"MONDO:0011575","Xref__c":"C565313"},{"URL__c":"https://www.orpha.net/en/disease/detail/66625","Source__c":"C1854108; MONDO:0011575; ORPHA:66625","Xref__c":"ORPHA:66625"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854108","Source__c":"C1854108","Xref__c":"C1854108"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011575","Source__c":"GARD:0003480","Xref__c":"MONDO:0011575"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Flatness of the supraorbital portion of the frontal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009891","HPO_Synonym__c":"Depressed supraorbital margins; Depressed supraorbital ridge; Flat supraorbital margins; Flat supraorbital ridge; Flattened bony protrusion above eyes; Hypoplasia of supraorbital margins; Hypoplasia of the supraorbital ridges; Hypoplastic supraorbital ridges; Shallow orbital ridges; Shallow supraorbital ridge","HPO_Name__c":"Underdeveloped supraorbital ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","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:66625","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"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the nostril.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005288","HPO_Synonym__c":"Abnormal naris morphology; Abnormality of the nares; Abnormality of the nostrils; Anomaly of the nares","HPO_Name__c":"Abnormal nostril morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the globe or eyeball.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000528","HPO_Synonym__c":"Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence","HPO_Name__c":"Anophthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital malformation with a cleft (gap or opening) in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002006","HPO_Synonym__c":"Cleft of the face; Facial cleft; Tessier facial cleft","HPO_Name__c":"Tessier cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010806","HPO_Synonym__c":"Carp-like mouth; Carp-shaped mouth; Fish mouth; Large, carp-shaped mouth; Wide, carp-shaped mouth","HPO_Name__c":"U-Shaped upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012639","HPO_Synonym__c":"Abnormal shape of nervous system; Abnormality of nervous system morphology","HPO_Name__c":"Abnormal nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the tragus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009912","HPO_Synonym__c":"Abnormality of the tragus","HPO_Name__c":"Abnormal tragus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006315","HPO_Synonym__c":"Only one upper front tooth; Single central incisor; Single central upper incisor; Single maxillary central incisor; Single median incisor; Single median maxillary incisor; Single midline maxillary incisor; Single midline upper front tooth; Solitary median maxillary central incisor; Solitary midline maxillary central incisor","HPO_Name__c":"Solitary median maxillary central incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","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:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","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:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased spaces (diastemata) between most of the teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000687","HPO_Synonym__c":"Generalized dental spacing; Generalized spacing of teeth; Multiple diastemata; Wide-spaced teeth; Widely spaced teeth; Widely-spaced teeth","HPO_Name__c":"Widely spaced teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100729","HPO_Synonym__c":"Big face; Large face; Large facies","HPO_Name__c":"Large face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66625","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["cerebro-oculo-nasal syndrome"]}