{"Name":"XK aprosencephaly","DiseaseID__c":"GARD:0000424","id":424,"encodedName":"xk-aprosencephaly","IsDeleted":false,"Disease_Name_Full__c":"XK aprosencephaly","Xref_IDs__c":"277921008; C0795952; C536767; MEDGEN:167087; MONDO:0008811; OMIM:207770; ORPHA:3469","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008811","Disease_Description__c":"A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.","GARD_Name__c":"XK aprosencephaly","GARD_Synonym__c":"aprosencephaly syndrome; garcia lurie syndrome; garcia-lurie syndrome; xk aprosencephaly syndrome; xk syndrome; xk-aprosencephaly","Curated_Disease_Description_Source__c":"MONDO:0008811","Curated_Disease_Description__c":"A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3469","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008811","ORPHANET_ID__c":"ORPHA:3469","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aprosencefalia xk","Spanish_Description_Source__c":"ORPHA:3469","Spanish_Description__c":"Es un síndrome muy poco frecuente de malformación cerebral caracterizado por aprosencefalia (ausencia de telencéfalo y diencéfalo), anomalías oculo-faciales (hipotelorismo ocular o ciclopía, malformación / ausencia de estructuras nasales, labio leporino), defectos preaxiales en las extremidades (manos hipoplásicas, halluces ausentes) y varias anomalías adicionales incluyendo genitales ambiguos, ano imperforado y anomalías vertebrales. Se cree que el síndrome sigue un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de aprosencefalia xk","Spanish_GARD_Synonym__c":"aprosencefalia xk; síndrome de garcia-lurie; síndrome xk","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 syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.","Curated_Disease_Description_Source__c":"MONDO:0008811","GARD_Synonym__c":"aprosencephaly syndrome; garcia lurie syndrome; garcia-lurie syndrome; xk aprosencephaly syndrome; xk syndrome; xk-aprosencephaly","Name":"XK aprosencephaly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3469"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3469"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3469"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0795952"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277921008","Source__c":"MONDO:0008811","Xref__c":"277921008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795952","Source__c":"C0795952","Xref__c":"C0795952"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536767","Source__c":"MONDO:0008811","Xref__c":"C536767"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167087","Source__c":"C0795952","Xref__c":"MEDGEN:167087"},{"URL__c":"https://www.omim.org/entry/207770","Source__c":"C0795952; MONDO:0008811; ORPHA:3469","Xref__c":"OMIM:207770"},{"URL__c":"https://www.orpha.net/en/disease/detail/3469","Source__c":"C0795952; MONDO:0008811; ORPHA:3469","Xref__c":"ORPHA:3469"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008811","Source__c":"GARD:0000424","Xref__c":"MONDO:0008811"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162839003","Source__c":"C0795952","Xref__c":"1162839003"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the external genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000811","HPO_Synonym__c":"Abnormal external genitalia","HPO_Name__c":"Abnormal external genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Frequent (30-79%)","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:3469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002818","HPO_Synonym__c":"Abnormality of the radius","HPO_Name__c":"Abnormal morphology of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology","Congenital Abnormality"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["aprosencephaly syndrome"," garcia lurie syndrome"," garcia-lurie syndrome"," xk aprosencephaly syndrome"," xk syndrome"," xk-aprosencephaly"]}