{"Name":"Preaxial polydactyly-colobomata-intellectual disability syndrome","DiseaseID__c":"GARD:0004304","id":4304,"encodedName":"preaxial-polydactyly-colobomata-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Preaxial polydactyly-colobomata-intellectual disability syndrome","Xref_IDs__c":"733088002; C2931655; C537888; MEDGEN:444110; MONDO:0017377; ORPHA:2921","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017377","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.","GARD_Name__c":"Preaxial polydactyly-colobomata-intellectual disability syndrome","GARD_Synonym__c":"pfeiffer mayer syndrome; pfeiffer-mayer syndrome; preaxial polydactyly, colobomata, intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0017377","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2921","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017377","ORPHANET_ID__c":"ORPHA:2921","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de polidactilia preaxial-coloboma-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:2921","Spanish_Description__c":"Es un síndrome dismórfico/con anomalías congénitas múltiples caracterizado por discapacidad intelectual, retraso del crecimiento, polidactilia preaxial unilateral y anomalías colobomatosas (incluyendo coloboma del iris, de la cabeza del nervio óptico, de la coroides y de la retina). No ha habido más descripciones en la literatura desde 1987.","Spanish_Disease_Name__c":"síndrome de polidactilia preaxial-coloboma-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome de pfeiffer-mayer","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 multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.","Curated_Disease_Description_Source__c":"MONDO:0017377","GARD_Synonym__c":"pfeiffer mayer syndrome; pfeiffer-mayer syndrome; preaxial polydactyly, colobomata, intellectual disability syndrome","Name":"Preaxial polydactyly-colobomata-intellectual disability 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":"Infancy","Provided_By__c":"ORPHA:2921"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2921"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931655","Source__c":"C2931655","Xref__c":"C2931655"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537888","Source__c":"MONDO:0017377","Xref__c":"C537888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444110","Source__c":"C2931655","Xref__c":"MEDGEN:444110"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733088002","Source__c":"C2931655; MONDO:0017377","Xref__c":"733088002"},{"URL__c":"https://www.orpha.net/en/disease/detail/2921","Source__c":"C2931655; MONDO:0017377; ORPHA:2921","Xref__c":"ORPHA:2921"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017377","Source__c":"GARD:0004304","Xref__c":"MONDO:0017377"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012109","HPO_Synonym__c":"Closed-angle glaucoma; Narrow angle glaucoma","HPO_Name__c":"Angle closure glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030515","HPO_Synonym__c":"Moderate reduction in visual acuity; Moderate vision loss; Moderate visual impairment; Moderate visual loss","HPO_Name__c":"Moderately reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A notch or cleft of the retina or choroid, located vertically below the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000480","HPO_Synonym__c":"Hole in the back of the eye","HPO_Name__c":"Retinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100258","HPO_Synonym__c":"Polydactyly, preaxial","HPO_Name__c":"Preaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2921","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:2921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["pfeiffer mayer syndrome"," pfeiffer-mayer syndrome"," preaxial polydactyly, colobomata, intellectual disability syndrome"]}