Klippel-Feil anomaly
Abnormal fusion of the cervical (neck) spine at the level of C2-3 or C4-5. which results in a fused appearance. Affected individuals appear to have a short neck, head tilt, low hairline and scoliosis.
CHARGE Syndrome
Characterized by eye (coloboma), heart (ASD, VSD, valve anomalies), genital, and ear (hearing deficit) anomalies. Atresia choanae (blockage of the nasal cavities) and growth retardation. Caused by genetic mutation in CHD7 gene
Binder syndrome (nasomaxillary hypoplasia)
Severe underdevelopment of the mid-face, flattening of the nose and absence of anterior nasal spine (support for the base of the nose). There is a relative protrusion of the lower jaw. May be associated with chondrodysplaisa punctata (CDP).
Branchio-oto-renal Syndrome (BOR)
This genetic disorder includes malformations of the ear and cysts and sinus tracts in and near the neck, hearing loss, and malformations of the kidney.
Atresia
Children with atresia do not hear well; usually their ears look abnormal. The ear canal, which carries sounds from the outside to the inner ear, is either closed or absent. See Microtia.
Venous Malformation (VM)
A Venous Malformation (VM) is a slow-flow anomaly (because it involves veins) that consists of enlarged, sponge-like channels.
Visceral Arch Syndrome
Congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch which can produce facial anomalies. Examples of first arch syndromes include Treacher Collins syndrome and Pierre Robin syndrome.
Vascular Malformations
Vascular malformations form when the channels that carry blood or lymph do not develop properly before birth. They usually grow as a child grows, and they don't go away without treatment.
Velocardiofacial Syndrome (VCFS, 22q11 Deletion Syndrome)
Velocardiofacial syndrome (VCFS or 22q11 Deletion Syndrome) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart.
Unilateral Coronal Synostosis
Form of Craniosynostosi where a premature closure of the spaces between bones on one side of the head causes a child's forehead to become flattened, an elevated and widened eye, tilting of the nose, and a slightly forward cheek on the same side.