Rare Oncology News

Disease Profile

PHACE syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q28.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PHACE association; PHACES association; Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities;

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

Summary

PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.[1] 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.[1] Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys. Treatment is based on the signs and symptoms present in the person.[1]

 

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cerebral artery morphology
Abnormality of cerebral artery
Abnormality of the cerebral arteries

[ more ]

0009145
30%-79% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Cerebral arteriovenous malformation
0002408
Dandy-Walker malformation
0001305
Glaucoma
0000501
Microphthalmia
Abnormally small eyeball
0000568
Optic nerve hypoplasia
0000609
5%-29% of people have these symptoms
Abnormal carotid artery morphology
0005344
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies

[ more ]

0000766
Abnormality of the orbital region
Abnormality of the eye region
Abnormality of the region around the eyes

[ more ]

0000315
Agenesis of corpus callosum
0001274
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
Capillary hemangioma
Strawberry birthmark
0005306
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Ectopic thyroid
Abnormal thryoid location
0100028
Global developmental delay
0001263
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Heterochromia iridis
Different colored eyes
0001100
Hypothyroidism
Underactive thyroid
0000821
Iris coloboma
Cat eye
0000612
Lens coloboma
0100719
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Ptosis
Drooping upper eyelid
0000508
Retinal vascular malformation
0007797
Sclerocornea
Hardening of skin and connective tissue
0000647
Seizure
0001250
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Tetralogy of Fallot
0001636
Visceral angiomatosis
0100761
Percent of people who have these symptoms is not available through HPO
Anomalous branches of internal carotid artery
0005314
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942
Arterial stenosis
Narrowing of an artery
0100545
Cavernous hemangioma of the face
0007486
Congenital hypothyroidism
Underactive thyroid gland from birth
0000851
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Horner syndrome
0002277
Increased retinal vascularity
0007986
Lingual thyroid
0100029
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Optic atrophy
0000648
Patent ductus arteriosus
0001643
Plaque-like facial hemangioma
0007434
Sporadic
No previous family history
0003745
Subglottic hemangioma
0410264
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
X-linked dominant inheritance
0001423

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The Childrens Craniofacial Association offers a booklet titled, A Guide to Understanding Hemangiomas. Click on Childrens Craniofacial Association to view a PDF copy of the booklet.
        • The Children's Hospital of Wisconsin Web site provides detailed information on PHACE association for people with this condition and their families. Click on the link above to access this page.

          In-Depth Information

          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss PHACE syndrome. Click on the link to view a sample search on this topic.

            Selected Full-Text Journal Articles

              Videos/Presentations

              • A Positive Exposure program called Positive Exposure has an educational film about PHACE syndrome that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

                References

                1. PHACE syndrome. Children's Hospital of Wisconsin. .; https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome. Accessed 11/14/2012.