Cleft and Craniofacial Disorders | Conditions Treated

Cleft lip is a deformity of the lip that occurs as a fetus is developing during pregnancy. With this condition, the lip fails to join together as it normally would. What results is an opening, called a cleft, in the lip. Cleft lip can be repaired with surgery.

The palate is the roof of the mouth. Cleft palate is a separation in the roof of the mouth that occurs when the palate fails to join together as a baby is developing before birth. Cleft palate can be repaired surgically.

Cri-du-chat syndrome occurs when a piece of chromosome 5 is missing in a child. Children with this condition may have intellectual disability, developmental delays, a small head size, low birth weight, and weak muscle tone in infancy, as well as distinctive facial features affecting the eyes, ears, and jaw.

Goldenhar syndrome occurs when a fetus is developing during pregnancy. It primarily affects how a baby’s eyes, ears, and spine develop. It may also affect the heart, lungs, kidneys and central nervous system.

Hemifacial microsomia occurs as a fetus develops before birth. Microsomia means the facial structures are abnormally small. In hemifacial microsomia, the lower half of one side of an infant’s face fails to develop normally.

Mandibulofacial dysostosis is a term that refers to conditions related to abnormalities in the face and lower jaw. These include:

Mandibulofacial dysostosis with microcephaly (MFDM)
MFDM is a rare craniofacial condition that causes developmental delays and abnormalities of the head and face. People with MFDM have a small head that doesn’t grow at the same rate as the rest of their body. They often are born with problems of the esophagus, hearing loss, cleft palate, heart problems, and many other medical issues.

Nager syndrome
Nager syndrome is a rare condition that affects a baby’s head and facial features, in addition to the hands and arms. Tissues and bones in these areas of a baby fail to fully develop when the fetus is in the womb. The syndrome can cause varying medical problems depending on the abnormalities present. We also care for the hand anomalies that are associated with this condition.

Treacher Collins syndrome
Treacher Collins syndrome is a rare genetic condition where some of the facial bones and tissues fail to fully develop. It can affect a baby’s jaw, ears, eyelids and cheekbones. The syndrome ranges from relatively mild to very severe.

Microtia is a birth defect that occurs when the outer ear or ears fail to fully develop during pregnancy. A child born with microtia may have a smaller-than-normal outer ear, a partial ear, or the ear may not be present at all.

Craniosynostosis occurs when two or more bones of the skull grow together, or fuse, earlier than they typically should. Synostosis interferes with normal growth of the brain and skull. “Non-syndromic” means other related abnormalities are not present. The types of non-syndromic craniosynostosis include:

• Coronal synostosis - Affects the side of the skull where the forehead and frontal lobe grow.
• Lambdoid synostosis - Affects the back of the skull and ear.
• Metopic synostosis - Affects the middle area of the forehead, extending from the soft spot to the nose.
• Sagittal synostosis - Affects the top of the skull extending from the soft spot toward the back of the head.

Noonan syndrome is a genetic condition. Common features of the syndrome include congenital heart disease, short stature, distinctive facial features, bleeding disorders, and learning disabilities.

Orofacial myofunctional disorders occur when there is an abnormal lip, jaw, or tongue position during rest, swallowing or speech. They may occur naturally or because of prolonged oral habits, like thumb or finger sucking.

Pierre Robin sequence is a set of abnormalities in a baby that develops during pregnancy. Its primary feature is an undeveloped lower jaw, which sets off a sequence of other malformations while a baby is developing in utero.

Plagiocephaly means slanted or flattening of the head. This condition typically occurs when an infant lies in one position too long with the head turned to only one side, causing a flat spot to develop.

Skeletal jaw abnormalities occur when the bones in the jaw grow at different rates. Abnormalities can include a jaw that is too small (micrognathia), too large, or an upper and lower jaw that don’t match in size.

Stickler syndrome is a group of hereditary conditions. The signs and symptoms vary widely among affected individuals. It typically affects the facial features, eyes, ears and joints. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance due to underdeveloped bones in the middle of the face.

Craniosynostosis occurs when two or more bones of the skull grow together, or fuse, earlier than they typically should. Synostosis interferes with normal growth of the brain and skull. “Syndromic” means other related abnormalities are present. The types of syndromic craniosynostosis include:

• Apert syndrome - Characterized by malformations of the head that lead to distinctive facial features; hands and/or feet may be webbed; in some cases intellectual ability is affected. We also care for the hand anomalies that are associated with this condition.
• Carpenter syndrome - Certain bones of the skull close too early, causing the top of the head to appear pointed; fingers or toes may be webbed; possible appearance of more than the normal number of fingers/toes.
• Crouzon disease - Sutures fuse early affecting the proper growth of the skull and head; bones in the face may be affected as well.
• Pfeiffer syndrome - Early fusion of certain skull bones cause the head to appear short and tall; can include anomalies of the hands and feet as well.
• Other syndromic craniosynostosis conditions treated: Muenke syndrome, Saethre-Chotzen, Jackson-Weiss, Berant’s syndrome, Greig’s cephalopolysyndactyly, Cranioectodermal dysplasia, Gorlin-Chaudhry-Moss syndrome

22Q-VCFS is a genetic condition with multiple medical conditions that vary from child to child. These can include cleft palate, heart defects, problems fighting infection, low calcium levels, differences in the way the kidneys are formed or work, a characteristic facial appearance, learning problems, and speech and feeding problems.

Velopharyngeal insufficiency (VPI) is when there is an abnormality of the soft palate on the roof of the mouth. It causes a speech disorder and nasal speech. VPI is common in children with cleft palate or a cleft under the skin of the soft palate.

Non-cleft VPI can be caused by removal of the adenoids. It can also be caused by brain conditions such as head trauma, stroke or neuromuscular diseases.