Apert Syndrome

Apert syndrome is a condition involving abnormal growth of the skull and the face due to early fusion of certain sutures of the skull.  Children with Apert’s have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Among other anomalies, children with Apert syndrome may also have webbed fingers and toes.

Cleft Lip/Palate

Cleft Lip and/or Palate is a separation of the parts or segments of the lip or roof of the mouth, which are usually joined together during the early weeks in the development of an unborn child. A cleft lip is a separation of the two sides of the lip and often includes the bones of the maxilla and/or the upper gum. A cleft palate is an opening in the roof of the mouth and can vary in severity. A cleft palate occurs when the two sides of the palate do not fuse as the unborn baby develops.

Craniosynostosis

Craniosynostosis is the premature fusion of one or more sutures in an infant’s skull, which affects the growth of the brain. Craniosynostosis can have severe repercussions, affecting the nervous system, pressure within the skull, cognitive development, spinal alignment, and sight.

Crouzon Syndrome

Crouzon Syndrome is a condition in which sutures in the head are prematurely fused resulting in abnormal growth of the skull and face. Children with Crouzon’s have bulging eyes due to abnormal growth of the mid-face. They may have a receding upper jaw and protruding lower jaw, as well as dental problems due to abnormal jaw growth.

Facial Cleft

Facial Cleft is a rare condition in which there are areas of absent bone and sometimes overlying skin, occurring either on one or both sides of the face.

Facial Palsy

Facial Palsy is a congenital or acquired deformity that causes complete or partial paralysis of  facial motion. Conditions, diseases, or injuries can disrupt the coordination of the facial nerve and facial muscles, which controls facial motions such as smiling, blinking, and frowning, thus resulting in facial palsy.

Frontonasal Dysplasia

Frontonasal Dysplasia, also known as Median Cleft Face Syndrome, is a condition in which the nose has a flat, wide appearance, and the eyes may be wide-set.  There is a groove of varying degrees, which runs down the middle of the face across the nose. In some cases the tip of the nose is missing. A gap with extra folds of skin covering it may appear on the front of the head.

Hemangioma

Hemangioma is a non-malignant tumor that is made up of rapidly growing endothelial or vascular cells.

Hemifacial Microsomia/Goldenhar Syndrome

Hemifacial Microsomia/Goldenhar Syndrome is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear. In Goldenhar syndrome benign growths of the eye (epibulbar dermoids) are present. Children with Goldenhar syndrome may also have neck problems, most commonly caused by a fusion of or bony bridges between the bones of the neck.

Microtia/Artresia

Microtia is an incompletely formed ear, ranging from an unusually small ear to a bump of tissue where the ear would normally be found. Artresia is the closing or absence of an ear canal in the middle ear. Microtia and artresia can occur alone or together and can also be associated with hemifacial microsomia. If both ears are affected, Treacher Collins syndrome may be involved.

Moebius Syndrome

Moebius Syndrome is a rare congenital developmental disorder, characterized by the absence or underdevelopment of the nerves that control facial (cranial nerve 7) and eye movements (cranial nerve 6). Most people with Moebius syndrome have weakness or complete paralysis of the facial muscles, making them unable to smile, frown, raise their eyebrows, close their eyelids, or pucker their lips. This syndrome may also result in drooling and difficulty in speaking. Infants can also have difficulty with sucking and swallowing.

Nager Syndrome

Nager Syndrome is a condition in which the facial characteristics include downward slanting eyelids, absent or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, clefting of the hard or soft palates, absence of lower eyelashes, and scalp hair extending on the cheek. Upper limb defects include underdeveloped or missing thumbs and the occasional absence of the radial limb.

Pfeiffer Syndrome

Pfeiffer Syndrome is a condition in which certain sutures are fused prematurely. The result is a high forehead, and the top of the head may appear pointed. The middle face appears flattened, the nose is small and has a flattened appearance, the eyes are widely spaced, and the upper jaw is underdeveloped, which causes the lower jaw to appear prominent. The thumbs and big toes have a broad appearance and teeth are often crowded.

Treacher Collins Syndrome

Treacher Collins is a condition in which the cheekbones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheekbones and notches in or the stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.