Posted by wyndi to Pediatric/Parenting, Sep 10, 2009 11:29pm
Please help us bring awareness to this disease. My daughter was born with PHACE syndrome and has fought very hard for her life. All of the children with this condition have hemangiomas (birthmarks) and the children and their parents are confronted by many people who see our child's hemangioma and react in very inappropriate and hurtful ways! This condition is rare which limits the amount of medical professionals that know how to treat the special cases. As a parent I have not only fought to get my daughter care when she was sick but have fought to get preventive care and knowledgeable Drs to help ensure her future!
WHAT IS PHACES Syndrome?
Posterior fossa abnormalities and other structural brain abnormalities
Hemangioma(s) of the cervical facial region
Arterial cerebrovascular anomalies
Cardiac defects, aortic coarctation and other aortic abnormalities
PHACES syndrome has a wide variable phenotypic expression and endocrine anomalies may represent a trait of the syndrome and should be always investigated. They may have growth hormone deficiency, pituitary anomalies, hypopituitarism, hypothyroidism or diabetes insipidus.
Absent pituitary or partially empty sella turcica, lingual ectopic thyroid Central hypothyroidis .