• Aneurysm: abnormal enlargement or outpouching of an artery due to a weak or malformed vessel wall

  • Aorta: the main artery which carries blood rich in oxygen from the heart to the rest of the body with the exception of the lungs

  • Aortic arch: the uppermost aspect of the aorta, giving this artery its candy cane shape

  • Audiologist: a health care professional who is trained to evaluate and rehabilitate hearing loss an and related ear problems

  • Basilar artery: artery in the brain that supplies the blood to the bottom and back of the brain including the pons, cerebellum and inner ear

  • Cerebellopontine angle: a fluid-filled space between the base of the cerebellum and the pons

  • Cerebrum: the largest part of the human brain, filling most of the skull and consisting of two hemispheres divided by a deep groove. It is the center of thought, learning, memory, language and emotions

  • Cerebrovascular abnormality: any abnormality of the blood vessels within the head or neck, most often arteries in PHACE

  • Circle of Willis: a connected collection of arteries that links the arterial blood supply between the back and the front of the brain

  • Coarctation of the aorta: focal narrowing of the aorta

  • Common carotid artery: an artery that supplies the head and neck with oxygenated blood. Each of two common carotid arteries divides in the neck to form separate internal and external carotid arteries

  • Computed tomography angiogram: combines the use of x-rays and computerized analysis to show pictures of arteries throughout the body

  • Conductive hearing loss: occurs when there is a problem getting sound waves through the structures of the ear (example fluid in the middle ear)

  • Dandy-Walker: a disorder diagnosed when several abnormalities of brain development are present together. These abnormalities are: enlarged posterior fossa, enlarged fourth ventricle, absence of the part of the cerebellum

  • Deep hemangioma: a type of birthmark made up of blood vessel cells which is located under the skin in the fatty tissue

  • Dysgenesis/hypoplasia/atrophy: defective/incomplete/complete underdevelopment of a tissue or organ

  • Echocardiogram: often referred to as an “echo,” it is an ultrasound of the heart. It can be used to image the structure of the heart and great vessels and assess heart function

  • Electroencephalogram: also called EEG, is the recording of electrical activity of the “brain waves”

  • Endocrine system: a system of glands which produce chemicals called hormones used to regulate the body

  • Epilepsy: a common chronic neurological disorder characterized by seizures or “fits”

  • External carotid artery: the branch of the carotid artery that supplies blood to the face, tongue, and external parts of the head

  • Hemiparesis: weakness or loss of muscle function on one side of the body due to brain, spinal cord, or nerve injury

  • Hypopituitarism: decreased production of some of the hormones made by the pituitary gland

  • Hypothyroidism: deficiency of thyroid hormone

  • Hypotonia: a state of low muscle tone often involving reduced muscle strength

  • Infantile hemangioma: a common type of birthmark made of blood vessels which is usually not present at birth, and goes through a growth, resting, and shrinking phase

  • Innominate artery/brachiocephalic artery: the first branch of the aortic arch which divides into the right common carotid and right subclavian arteries. It supplies blood to the right arm, head and neck

  • Internal carotid artery: artery that arises from the common carotid artery in the neck and branches in the brain into the anterior and middle cerebral arteries.

  • Magnetic Resonance Angiogram (MRA): a noninvasive technique that uses MRI to evaluate the arterial system

  • Magnetic Resonance Imaging (MRI): a noninvasive technique that permits detailed visualization of internal structures

  • Micropthalmia: developmental defect where the eye (or eyes) are smaller than normal

  • Mixed hearing loss: hearing loss due to both conductive and sensorineural problems (see those entries)

  • Mixed hemangioma: a hemangioma that has both deep and superficial components (see those entries)

  • Morning glory disc: an abnormality of the eye and its blood vessels that resembles the morning glory flower

  • Neurologist: a doctor who specializes in the diseases of the nervous system, a complex system involving the spinal cord and the brain

  • Opisthotonus: a condition in which the body spasms so the head and heels are arched backwards in a fixed position

  • Ophthalmologist: a doctor who specializes in the eyes

  • Optic nerve hypoplasia: a condition where the optic nerve is underdeveloped resulting in a smaller than normal optic nerve

  • Otolaryngologist: an ear, nose, throat specialist

  • Patent foramen ovale: A heart defect where there is a persistent opening between the left and right atria which allows blood to bypass the lungs

  • Persistent fetal vasculature: a condition where blood vessels in the retina that should disappear as the fetus develops inside the womb do not disappear PHACE Syndrome: a condition in which a set of defects are present, mainly involving the Posterior fossa, Hemangiomas, Arteries, Cardiac (heart), and Eyes. Diagnostic criteria need to be met to make the determination of PHACE Syndrome

  • Posterior fossa: the space inside the skull which contains the brainstem and cerebellum

  • Segmental hemangioma: a type of birthmark made of blood vessel cells located across a large area of skin

  • Seizure: an abnormal burst of electrical signals in the brain which temporarily interrupts the brain’s normal function

  • Sensorineural hearing loss: occurs when there is damage to the inner ear (cochlea), or to the nerve pathways from the inner ear to the brain

  • Sternal cleft: a groove or split in the sternum

  • Sternal papule: a raised bump on the skin on the sternum

  • Sternal pit: a small indentation or dimple in the skin overlying the sternum

  • Sternum: The bone in the front middle of the chest wall that joins the two sides of the rib cage

  • Stridor: a “barking cough” that is caused by an obstruction in the windpipe or larynx. In PHACE it may be due to an airway hemangioma

  • Stroke: loss of brain function due to disturbance in blood supply to the one or more areas of the brain

  • Subclavian artery: artery that branches from the arch of the aorta in the chest to supply blood to the arm

  • Subglottic hemangioma: a type of birthmark made of blood vessel cells located in the area directly below where the vocal cords are in the airway

  • Superficial hemangioma: a type of birthmark made of blood vessel cells located only on the surface of the skin

  • Supraumbilical raphe: a scar-like line that extends upward from the umbilicus (belly button)

  • Ulceration: when a patch of tissue breaks down and causes a sore

  • Vascular ring: abnormally formed blood vessels that make a ring around the trachea (“breathing tube”)

  • Ventricular septal defect: opening in the walls between the heart ventricles (septum) that allows communication between the left and right ventricle of the heartVertebral artery: artery which arises from the subclavian artery and supplies blood to the brainstem, cerebellum and back parts of the brain

Glossary of PHACE Syndrome-related terms
GLOSSARY

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