{"Name":"PHACE syndrome","DiseaseID__c":"GARD:0008338","id":8338,"encodedName":"phace-syndrome","IsDeleted":false,"Disease_Name_Full__c":"PHACE syndrome","Xref_IDs__c":"C1847874; MEDGEN:376231; MONDO:0011676; OMIM:606519; ORPHA:42775","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011676","Disease_Description__c":"PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.","GARD_Name__c":"PHACE syndrome","GARD_Synonym__c":"aortic aneurysm, giant congenital; pascual-castroviejo syndrome type 2; phace association; phaces association; phaces syndrome","Curated_Disease_Description_Source__c":"GARD:0008338","Curated_Disease_Description__c":"PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown.","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:42775","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011676","ORPHANET_ID__c":"ORPHA:42775","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome phace","Spanish_Description_Source__c":"ORPHA:42775","Spanish_Description__c":"PHACE es un acrónimo inglés utilizado para describir un síndrome caracterizado por la asociación de malformaciones de fosa posterior cerebral, grandes hemangiomas faciales, anomalías anatómicas de las arterias cerebrales, coartación aórtica y otras anomalías cardiacas, y anomalías oculares. En ocasiones también se presentan anomalías del esternón, en cuyo caso el síndrome se denomina PHACES. Recientemente se han añadido otras dos manifestaciones al espectro clínico del síndrome PHACE: estenosis de los vasos en la base craneal y dilataciones segmentarias longitudinales de la arteria carótida interna.","Spanish_Disease_Name__c":"síndrome phace","Spanish_GARD_Synonym__c":"síndrome de pascual-castroviejo tipo 2","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":"PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0008338","GARD_Synonym__c":"aortic aneurysm, giant congenital; pascual-castroviejo syndrome type 2; phace association; phaces association; phaces syndrome","Name":"PHACE syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vascular Birthmarks Foundation","Website__c":"https://birthmark.org/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"PHACE Syndrome Community","Website__c":"https://www.phacesyndromecommunity.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"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":"Antenatal","Provided_By__c":"ORPHA:42775"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:42775"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:42775"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376231","Source__c":"C1847874","Xref__c":"MEDGEN:376231"},{"URL__c":"https://www.orpha.net/en/disease/detail/42775","Source__c":"C1847874; MONDO:0011676","Xref__c":"ORPHA:42775"},{"URL__c":"https://www.omim.org/entry/606519","Source__c":"C1847874; MONDO:0011676","Xref__c":"OMIM:606519"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847874","Source__c":"C1847874","Xref__c":"C1847874"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011676","Source__c":"GARD:0008338","Xref__c":"MONDO:0011676"}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001680","HPO_Synonym__c":"Aortic coarctation; Coarctation of the aorta; Narrowing of aorta; Narrowing of the aorta","HPO_Name__c":"Coarctation of aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100761","HPO_Name__c":"Visceral angiomatosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000315","HPO_Synonym__c":"Abnormality of the eye region; Abnormality of the region around the eyes","HPO_Name__c":"Abnormality of the orbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","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:42775","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009145","HPO_Synonym__c":"Abnormality of cerebral artery; Abnormality of the cerebral arteries","HPO_Name__c":"Abnormal cerebral artery morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","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:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","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:42775","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:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the intra-atrial or intraventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001671","HPO_Synonym__c":"Abnormality of the cardiac septa; Heart septal defect; Septal defects","HPO_Name__c":"Abnormal cardiac septum morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002408","HPO_Synonym__c":"Cerebral AV malformation","HPO_Name__c":"Cerebral arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","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:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","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:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mislocalised thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100028","HPO_Synonym__c":"Aberrant thyroid; Aberrant thyroid gland; Abnormal thyroid location; Ectopic thyroid gland; Heteropic thyroid gland","HPO_Name__c":"Ectopic thyroid","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000647","HPO_Synonym__c":"Hardening of skin and connective tissue","HPO_Name__c":"Sclerocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002616","HPO_Synonym__c":"Bulge in wall of root of large artery that carries blood away from heart; Enlarged aortic root; Increased aortic root diameter","HPO_Name__c":"Aortic root aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005344","HPO_Synonym__c":"Abnormality of the carotid arteries","HPO_Name__c":"Abnormal carotid artery morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","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:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of development abnormalities of retinal blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007797","HPO_Synonym__c":"Retinal vascular malformation","HPO_Name__c":"Developmental retinal vascular malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100719","HPO_Name__c":"Lens coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42775","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Cardiology","Neurology","Vascular Neurology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"]},"synonyms":["aortic aneurysm, giant congenital"," pascual-castroviejo syndrome type 2"," phace association"," phaces association"," phaces syndrome"]}