{"Name":"Pai syndrome","DiseaseID__c":"GARD:0003439","id":3439,"encodedName":"pai-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pai syndrome","Xref_IDs__c":"722201004; C1835087; C536135; MEDGEN:371972; MONDO:0007956; OMIM:155145; ORPHA:1993","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007956","Disease_Description__c":"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.","GARD_Name__c":"Pai syndrome","GARD_Synonym__c":"median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome; median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome; median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome","Curated_Disease_Description_Source__c":"MONDO:0007956","Curated_Disease_Description__c":"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.","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:1993","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007956","ORPHANET_ID__c":"ORPHA:1993","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pai","Spanish_Description_Source__c":"ORPHA:1993","Spanish_Description__c":"Es una displasia frontonasal poco frecuente caracterizada por una hendidura media del labio superior (HML), pólipos en la línea media de la piel de la cara y de la mucosa nasal, y lipomas de cuerpo calloso. También se observa hipertelorismo acompañado de anomalías oculares, con un desarrollo neuropsicológico por lo general normal.","Spanish_Disease_Name__c":"síndrome de pai","Spanish_GARD_Synonym__c":"síndrome de hendidura media del labio superior-lipoma del cuerpo calloso-pólipos cutáneos en la línea media","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 frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.","Curated_Disease_Description_Source__c":"MONDO:0007956","GARD_Synonym__c":"median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome; median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome; median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome","Name":"Pai 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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1993"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1993"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371972","Source__c":"C1835087","Xref__c":"MEDGEN:371972"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835087","Source__c":"C1835087","Xref__c":"C1835087"},{"URL__c":"https://www.omim.org/entry/155145","Source__c":"C1835087; MONDO:0007956; ORPHA:1993","Xref__c":"OMIM:155145"},{"URL__c":"https://www.orpha.net/en/disease/detail/1993","Source__c":"C1835087; MONDO:0007956; ORPHA:1993","Xref__c":"ORPHA:1993"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722201004","Source__c":"C1835087; MONDO:0007956","Xref__c":"722201004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536135","Source__c":"MONDO:0007956","Xref__c":"C536135"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007956","Source__c":"GARD:0003439","Xref__c":"MONDO:0007956"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006866","HPO_Synonym__c":"Midline CNS lipomas","HPO_Name__c":"Midline central nervous system lipomas","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","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:1993","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100582","HPO_Synonym__c":"Nasal polyps; Polyposis nasi; Polyps of nose","HPO_Name__c":"Nasal polyposis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Frequent (30-79%)","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:1993","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cleft lip presenting as a midline (median) gap in the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000161","HPO_Synonym__c":"Central cleft upper lip; Midline cleft lip","HPO_Name__c":"Median cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004122","HPO_Synonym__c":"Central defect of nose; Central nasal defect; Midline defect of the nose; Midline nasal defect","HPO_Name__c":"Midline defect of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010609","HPO_Synonym__c":"Acrochorda","HPO_Name__c":"Skin tags","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1993","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000190","HPO_Synonym__c":"Abnormality of frenum of tongue; Abnormality of lingual frenum; Abnormality of oral frenula; Abnormality of oral frenum","HPO_Name__c":"Abnormal oral frenulum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1993","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007370","HPO_Synonym__c":"Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum","HPO_Name__c":"Aplasia/Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome"," median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome"," median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome"]}