{"Name":"Aicardi syndrome","DiseaseID__c":"GARD:0005764","id":5764,"encodedName":"aicardi-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Aicardi syndrome","Xref_IDs__c":"80651009; C0175713; C35256; D058540; DOID:8461; MEDGEN:61236; MONDO:0010568; NBK1381; OMIM:304050; ORPHA:50","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010568","Disease_Description__c":"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.","GARD_Name__c":"Aicardi syndrome","GARD_Synonym__c":"agenesis of corpus callosum with chorioretinal abnormality; aic; aic - aicardi syndrome; aicardi syndrome, x-linked dominant; aicardi's syndrome; aicardi’s syndrome; corpus callosum agenesis of with chorioretinal abnormality; corpus callosum, agenesis of, with chorioretinal abnormality","Curated_Disease_Description_Source__c":"GARD:0005764","Curated_Disease_Description__c":"Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina). People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows.  Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding. The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:50","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010568","ORPHANET_ID__c":"ORPHA:50","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aicardi","Spanish_Description_Source__c":"ORPHA:50","Spanish_Description__c":"Es un trastorno poco frecuente del neurodesarrollo caracterizado por la tríada clásica de agenesia del cuerpo calloso (total o parcial), lagunas coriorretinianas centrales y espasmos infantiles, que afecta casi exclusivamente a mujeres.","Spanish_Disease_Name__c":"síndrome de aicardi","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":"Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina). People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows.  Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding. The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.","Curated_Disease_Description_Source__c":"GARD:0005764","GARD_Synonym__c":"agenesis of corpus callosum with chorioretinal abnormality; aic; aic - aicardi syndrome; aicardi syndrome, x-linked dominant; aicardi's syndrome; aicardi’s syndrome; corpus callosum agenesis of with chorioretinal abnormality; corpus callosum, agenesis of, with chorioretinal abnormality","Name":"Aicardi syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Organization of Disorders of the Corpus Callosum","Website__c":"https://nodcc.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Aicardi Syndrome Foundation","Website__c":"https://www.aicardisyndromefoundation.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"Neonatal","Provided_By__c":"ORPHA:50"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0175713"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1381","Source__c":"Gene Review","Xref__c":"NBK1381"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8461","Source__c":"MONDO:0010568","Xref__c":"DOID:8461"},{"URL__c":"https://www.omim.org/entry/304050","Source__c":"C0175713; MONDO:0010568; ORPHA:50","Xref__c":"OMIM:304050"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35256","Source__c":"C0175713; MONDO:0010568","Xref__c":"C35256"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80651009","Source__c":"C0175713; MONDO:0010568","Xref__c":"80651009"},{"URL__c":"https://www.orpha.net/en/disease/detail/50","Source__c":"C0175713; MONDO:0010568; ORPHA:50","Xref__c":"ORPHA:50"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058540","Source__c":"C0175713; MONDO:0010568","Xref__c":"D058540"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175713","Source__c":"C0175713","Xref__c":"C0175713"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61236","Source__c":"C0175713","Xref__c":"MEDGEN:61236"},{"URL__c":"https://medlineplus.gov/genetics/condition/aicardi-syndrome","Source__c":"GARD:0005764","Xref__c":"https://medlineplus.gov/genetics/condition/aicardi-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010568","Source__c":"GARD:0005764","Xref__c":"MONDO:0010568"}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010759","HPO_Synonym__c":"Anterior position of the premaxilla; Anterior position of the primary palate bone; Premaxillary bone excess; Prominence of the intermaxillary bone; Prominence of the primary palate bone; Prominent premaxilla","HPO_Name__c":"Prominence of the premaxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003305","HPO_Name__c":"Block vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disproportionately small hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200055","HPO_Synonym__c":"Disproportionately small hands; Small hand","HPO_Name__c":"Small hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007360","HPO_Synonym__c":"Absent/small cerebellum; Absent/underdeveloped cerebellum; Atrophy/Degeneration affecting the cerebellum; Atrophy/Hypoplasia of the cerebellum; Cerebellar hypoplasia/atrophy","HPO_Name__c":"Aplasia/Hypoplasia of the cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","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:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000892","HPO_Synonym__c":"Cleft ribs; Split ribs","HPO_Name__c":"Bifid ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","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:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete or partial merging of adjacent ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000902","HPO_Synonym__c":"Fused ribs; Rib fusion","HPO_Name__c":"Rib fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003316","HPO_Synonym__c":"Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae","HPO_Name__c":"Butterfly vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","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:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number and/or decreased diameter of lateral eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005338","HPO_Synonym__c":"Lateral hypoplasia of eyebrows; Lateral thinning of eyebrows; Laterally sparse eyebrow; Laterally sparse eyebrows; Limited hair on end of eyebrow","HPO_Name__c":"Sparse lateral eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011343","HPO_Synonym__c":"Global developmental delay, moderate","HPO_Name__c":"Moderate global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002884","HPO_Name__c":"Hepatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","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:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly with absence of one or more ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000921","HPO_Synonym__c":"Absent ribs; Decreased rib number; Missing ribs","HPO_Name__c":"Missing ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200008","HPO_Synonym__c":"Multiple intestinal polyps","HPO_Name__c":"Intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of more than 12 rib pairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005815","HPO_Synonym__c":"Extra ribs","HPO_Name__c":"Supernumerary ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A partial failure of the development of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001338","HPO_Synonym__c":"Corpus callosum agenesis, partial; Partial agenesis of corpus callosum; Partial corpus callosum agenesis; Partial or complete agenesis of corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum","HPO_Name__c":"Partial agenesis of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001302","HPO_Synonym__c":"Cerebral pachygyria; Fewer and broader ridges in brain; Macrogyria","HPO_Name__c":"Pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002036","HPO_Synonym__c":"Hiatal hernia; Stomach hernia","HPO_Name__c":"Hiatus hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012469","HPO_Name__c":"Infantile spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Ophthalmology","Retinal","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Account":["Retinal","Epilepsy"]},"synonyms":["agenesis of corpus callosum with chorioretinal abnormality"," aic"," aic - aicardi syndrome"," aicardi syndrome, x-linked dominant"," aicardi's syndrome"," aicardi’s syndrome"," corpus callosum agenesis of with chorioretinal abnormality"," corpus callosum, agenesis of, with chorioretinal abnormality"],"spanishId":12500,"spanishName":"sindrome-de-aicardi"}