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