{"Name":"Blepharophimosis, ptosis, and epicanthus inversus syndrome","DiseaseID__c":"GARD:0000023","id":23,"encodedName":"blepharophimosis-ptosis-and-epicanthus-inversus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Blepharophimosis, ptosis, and epicanthus inversus syndrome","Xref_IDs__c":"715391004; C0220663; C562419; DOID:14778; MEDGEN:66312; MONDO:0007201; NBK1441; OMIM:110100; ORPHA:126","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007201","Disease_Description__c":"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).","GARD_Name__c":"Blepharophimosis, ptosis, and epicanthus inversus syndrome","GARD_Synonym__c":"blepharophimosis epicanthus inversus ptosis syndrome; blepharophimosis types 1 and 2; blepharophimosis-epicanthus inversus-ptosis syndrome; blepharophimosis-ptosis-epicanthus inversus syndrome; blepharophimosis, epicanthus inversus, and ptosis, type 1; blepharophimosis, epicanthus inversus, and ptosis, type 2; blepharophimosis, ptosis, and epicanthus inversus; blepharophimosis, ptosis, epicanthus inversus syndrome; bpes; bpes - blepharophimosis epicanthus inversus ptosis syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or 'lazy eye' (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum). There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:126","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007201","ORPHANET_ID__c":"ORPHA:126","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de blefarofimosis-ptosis-epicanto inverso","Spanish_Description_Source__c":"ORPHA:126","Spanish_Description__c":"Es un trastorno oftalmológico poco frecuente caracterizado por blefarofimosis, ptosis, epicanto inverso y telecanto, pudiendo estar asociado, o no, a insuficiencia ovárica primaria (IOP), tipo 1 y tipo 2, respectivamente.","Spanish_Disease_Name__c":"síndrome de blefarofimosis-ptosis-epicanto inverso","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":"Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or 'lazy eye' (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum). There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"blepharophimosis epicanthus inversus ptosis syndrome; blepharophimosis types 1 and 2; blepharophimosis-epicanthus inversus-ptosis syndrome; blepharophimosis-ptosis-epicanthus inversus syndrome; blepharophimosis, epicanthus inversus, and ptosis, type 1; blepharophimosis, epicanthus inversus, and ptosis, type 2; blepharophimosis, ptosis, and epicanthus inversus; blepharophimosis, ptosis, epicanthus inversus syndrome; bpes; bpes - blepharophimosis epicanthus inversus ptosis syndrome","Name":"Blepharophimosis, ptosis, and epicanthus inversus syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.org"},{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"},{"Account_Name__c":"BPES Family Support","Website__c":"http://www.bpes.org.uk"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:126"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1441","Source__c":"Gene Review","Xref__c":"NBK1441"},{"URL__c":"https://www.orpha.net/en/disease/detail/126","Source__c":"C0220663; MONDO:0007201; ORPHA:126","Xref__c":"ORPHA:126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562419","Source__c":"MONDO:0007201","Xref__c":"C562419"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715391004","Source__c":"C0220663; MONDO:0007201","Xref__c":"715391004"},{"URL__c":"https://www.omim.org/entry/110100","Source__c":"C0220663; MONDO:0007201; ORPHA:126","Xref__c":"OMIM:110100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220663","Source__c":"C0220663","Xref__c":"C0220663"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66312","Source__c":"C0220663","Xref__c":"MEDGEN:66312"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14778","Source__c":"MONDO:0007201","Xref__c":"DOID:14778"},{"URL__c":"https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome","Source__c":"GARD:0000023","Xref__c":"https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007201","Source__c":"GARD:0000023","Xref__c":"MONDO:0007201"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXL2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxl2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:126","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"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Very frequent (80-99%)","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:126","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011481","HPO_Synonym__c":"Abnormality of the lacrimal canaliculus; Abnormality of the lacrimal duct","HPO_Name__c":"Abnormal lacrimal duct morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:126","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:126","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["blepharophimosis epicanthus inversus ptosis syndrome"," blepharophimosis types 1 and 2"," blepharophimosis-epicanthus inversus-ptosis syndrome"," blepharophimosis-ptosis-epicanthus inversus syndrome"," blepharophimosis, epicanthus inversus, and ptosis, type 1"," blepharophimosis, epicanthus inversus, and ptosis, type 2"," blepharophimosis, ptosis, and epicanthus inversus"," blepharophimosis, ptosis, epicanthus inversus syndrome"," bpes"," bpes - blepharophimosis epicanthus inversus ptosis syndrome"]}