Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
Summary
1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum.
2. A research study is currently being conducted at the Oregon Health & Science University to investigate if there is an inherited cause of PHACE syndrome.
3. We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.
Description
If you and your child agree to participate in this study, the following will happen:
1. The principal investigator at OHSU, or her appointed representative, will review the study protocol and consent form with you and answer any questions- this can be done over the phone.
2. If you choose to participate, the investigator will obtain informed consent for study participation, consent to obtain medical records, and a small amount of logistical information such as address and phone number.
3. Subjects and parents will have a blood draw which can be done a local laboratory.
4. If the subject undergoes surgery for another reason and there is tissue which would otherwise be discarded, we may ask to receive this sample for research purposes.
5. We will request completion of two surveys about the individual's medical history as it relates to this condition.
6. The purpose of this study is to promote the understanding of the inheritance of hemangiomas associated with brain, eye and heart anomalies. The DNA obtained from participants are stored in a DNA repository and genetic data bank for current and future research projects related to their genetic disorders. The DNA specimens will be used to map disease-related genes. The principal investigator uses her discretion to decide which investigators will have access to this resource. The analysis of the specimens will vary depending on the investigator and his/her specific protocol.
Study Design
Observational Model: Family-Based, Time Perspective: Prospective
Conditions
PHACE Syndrome
Location
Oregon Health & Science University
Portland
Oregon
United States
97239
Status
Recruiting
Source
Oregon Health and Science University
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT01016756
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
22q11 Deletion Syndrome
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Costello Syndrome
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Loeys-dietz Syndrome
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Plummer-vinson Syndrome
A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom.
Prune Belly Syndrome
A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin.
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PubMed Articles
Risk for PHACE Syndrome in Infants With Large Facial Hemangiomas.
Objectives: This study was conducted to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangi...
Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome.
PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anom...
PHACE syndrome is a neuro-cutaneous syndrome characterized by malformations of the Posterior fossa, facial Hemangiomas, Arterial anomalies, Cardiac anomalies, and abnormalities of the Eye. The arteria...
BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that c...
PHACE syndrome is characterized by posterior fossa malformations (P), large facial hemangiomas (H), arterial anomalies (A), cardiac anomalies or coarctation of aorta (C), and eye anomalies (E) and...
