This syndrome results from an underdevelopment of the bones in the middle third of the face and head. The child has a high, flat, prominent forehead and a head that is wider than usual; bulging eyes because of small eye sockets; strabismus, in which one eye tends to turn to the side or upwards rather than straight ahead; a smaller-than-normal upper jaw and protruding lower jaw; crowding of the teeth; a high, arched, narrow palate; and, in about half of children, hearing loss.
Capillary malformation (CM) is a common vascular birthmark also known as a port-wine stain because of the pink/red/purple discoloration of the skin, consists of small blood vessels (capillaries) in the skin.
Very rare form of craniosynostosis (fewer than 40 cases have been reported to date), children develop an asymmetrical, tower-shaped head, a short neck, webbing between fingers and toes, and extra fingers.
Cleft lip is a gap in the skin and muscle between the nose and upper lip; often the gum ridge is also involved. There are several types of cleft lip, depending on which parts of the skin have joined. The cleft can be on one side (unilateral) or on both sides (bilateral).
Failure of the roof of the mouth to close between weeks 8 to 12 of pregnancy, when bone and muscle grow in from both sides of the upper jaw to divide the mouth from the nose.
Rare birth defect characterized by low birth weight; an abnormal pit, opening, or skin abnormality behind both ears; distinctive malformations of the head and facial area; abnormalities of the eyes; and premature graying of the scalp hair in adolescence. Caused by a mutation in TFAP2A gene.
Genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the cranial bones from growing normally and affects the shape of the head and face. There is also abnormal fusion of joints of the fingers and toes.
A fast-flow anomaly composed of abnormal connections between arteries and veins. AVMs can expand and cause pain, skin breakdown, overgrowth of tissue, and rarely congestive heart failure. AVMs often require embolization (blockage by a catheter), followed by surgical resection.
