{"Name":"Macular coloboma-cleft palate-hallux valgus syndrome","DiseaseID__c":"GARD:0016802","id":16802,"encodedName":"macular-coloboma-cleft-palate-hallux-valgus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Macular coloboma-cleft palate-hallux valgus syndrome","Xref_IDs__c":"722463001; C1857619; C565686; MEDGEN:341812; MONDO:0009001; OMIM:216800; ORPHA:91494","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009001","Disease_Description__c":"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.","GARD_Name__c":"Macular coloboma-cleft palate-hallux valgus syndrome","GARD_Synonym__c":"coloboma of macula and skeletal anomalies","Curated_Disease_Description_Source__c":"ORPHA:91494","Curated_Disease_Description__c":"Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:91494","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009001","ORPHANET_ID__c":"ORPHA:91494","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de coloboma macular-paladar hendido-hallux valgus","Spanish_Description_Source__c":"ORPHA:91494","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de coloboma macular bilateral, paladar hendido y hallux valgus. Se ha descrito en un hermano y una hermana. También se notificaron anomalías pélvicas, de las extremidades y digitales. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de coloboma macular-paladar hendido-hallux valgus","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":"Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"ORPHA:91494","GARD_Synonym__c":"coloboma of macula and skeletal anomalies","Name":"Macular coloboma-cleft palate-hallux valgus 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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91494"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341812","Source__c":"C1857619","Xref__c":"MEDGEN:341812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722463001","Source__c":"MONDO:0009001","Xref__c":"722463001"},{"URL__c":"https://www.orpha.net/en/disease/detail/91494","Source__c":"C1857619; MONDO:0009001","Xref__c":"ORPHA:91494"},{"URL__c":"https://www.omim.org/entry/216800","Source__c":"C1857619; MONDO:0009001; ORPHA:91494","Xref__c":"OMIM:216800"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857619","Source__c":"C1857619","Xref__c":"C1857619"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565686","Source__c":"MONDO:0009001","Xref__c":"C565686"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009001","Source__c":"GARD:0016802","Xref__c":"MONDO:0009001"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Patellar dislocation occurring repeated times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005001","HPO_Synonym__c":"Recurrent dislocation of patellas","HPO_Name__c":"Recurrent patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002673","HPO_Synonym__c":"Valgus hip","HPO_Name__c":"Coxa valga","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001116","HPO_Synonym__c":"Coloboma of the macula; Macular coloboma","HPO_Name__c":"Macular pseudocoloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009184","HPO_Name__c":"Contracture of the distal interphalangeal joint of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216800","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Retinal","Pediatrics"],"Account":["Craniofacial Anomalies","Retinal"]},"synonyms":["coloboma of macula and skeletal anomalies"]}