Rare Endocrinology News
Disease Profile
PHACE syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 | |
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 |
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 |
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 |
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 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Drooping upper eyelid
|
0000508 | |
Retinal vascular malformation | 0007797 | |
Sclerocornea |
Hardening of skin and connective tissue
|
0000647 |
0001250 | ||
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 | |
Underactive thyroid gland from birth
|
0000851 | |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
Horner |
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 |
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
- Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE
Syndrome Research Conference. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009 Nov;124(5):1447-56. Epub 2009 Oct 26. (PDF)
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
-
PHACE Syndrome Community
4514 Chamblee Dunwood Rd.
Suite 450
Atlanta, GA 30338
Telephone: 678-744-3971
E-mail: [email protected]
Website: https://www.phacesyndromecommunity.org/
Organizations Providing General Support
-
National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
E-mail: [email protected]
Website: https://www.novanews.org
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
- Judd CD, Chapman PR, Koch B, Shea CJ. Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol. 2007 Jan;28(1):25-9. (PDF)
- Church DG, Lowe LH. Case 103: PHACE syndrome. Radiology. 2006 Dec;241(3):939-42.
- Drolet BA, Dohil M, Golomb MR, Wells R, Murowski L, Tamburro J, Sty J, Friedlander SF. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics. 2006 Mar;117(3):959-64. (PDF)
- Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of Infantile Hemangiomas: New Clues to Hemangioma Pathogenesis and Embryonic Facial Development. Pediatrics. Mar 2006; 117: 698 703. (PDF)
- Bronzetti G et al., Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta, and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report and Review. Pediatrics. Feb 2004; 113: 412 415. (PDF)
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
- 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.