Syndromes That Cause Facial Anomalies and Asymmetries

Beckwith-Wiedemann syndrome is a genetic disorder estimated to affect about 1 in 11,000 births. However, some babies with milder symptoms may never be formally diagnosed. 

Beckwith-Wiedemann syndrome is an overgrowth in children that causes them to be larger than their peers during childhood. It is usually diagnosed at birth when several of the syndrome’s features are noticeable in a baby, including:

• Abdominal wall defects
• An enlarged tongue
• Enlarged abdominal organs
• Increased risk of certain childhood cancers
• Large birth weight and length (macrosomia)
• Low blood sugar levels in newborns
• Overgrowth of one side or part of the body
• Pits or creases in the earlobe

If your child has been diagnosed with Beckwith-Wiedemann syndrome, our multidisciplinary care team will work closely with you to monitor your child’s health. Our plastic and reconstructive surgeons will work closely with your team to address any concerns, such as an enlarged tongue, to help improve your child’s whole health.

Binder syndrome is a rare congenital (present at birth) disease that affects the face. It’s also called nasomaxillary hypoplasia or maxillofacial dysplasia. 

The most common sign or characteristic of Binder syndrome is a flat, underdeveloped midface and flattened nose. These characteristics are caused by the undergrowth of the central face, which can include the nose and upper jaw. This undergrowth can make it look like your child has a facial imbalance or underdeveloped upper jaw. 

Symptoms of the condition can also include:

• Bone deficiency on either side of the nose
• Recessed jaw
• Tiny nose
• Underbite 

In many cases, reconstructive surgery can help correct the condition and any facial abnormalities. Your child’s surgeon will discuss the approach that’s right for your child, based on the severity of their condition and any other health issues.

CHARGE syndrome is a rare and complex disorder that refers to a pattern of birth defects. The mnemonic CHARGE describes the features that are commonly present in the disorder:

• Coloboma (a hole in the eye structure)
• Heart defects
• Atresia choanae (also known as choanal atresia)
• Restriction of development
• Genital abnormalities
• Ear and hearing abnormalities

With CHARGE syndrome, no two children are alike. The areas affected and severity can vary greatly between kids. Your child may have several major characteristics or a combination of major and minor characteristics. It’s critical to find the right care for your child as the multiple health problems can be life-threatening in infancy. 

At AdventHealth for Children, our team takes a tailored approach to care to ensure your child gets the care they need, when they need it. We understand the stress and worry that can come with a CHARGE syndrome diagnosis. We’ll be by your side, navigating each treatment option to create a path that’s right for your child. 

Craniofacial fibrous dysplasia is a bone disease of the face and skull that happens when fibrous-type tissue replaces normal bone. This tissue is soft, which makes the bone more fragile and easier to break. 

The condition can cause a child’s facial features to shift, which creates a look of facial asymmetry. Boys are more commonly diagnosed with craniofacial fibrous dysplasia than girls are, and symptoms are usually noticeable between ages 3 and 15. 

Our team will collaborate closely with plastic surgeons, neurosurgeons and ophthalmologists to ensure your child has a surgical and treatment plan that delivers the best possible outcome — and helps your child feel confident and comfortable.

Goldenhar syndrome is a rare congenital (present at birth) condition. Children with the syndrome have abnormal development of the eye, ear and spine. This may include: 

• Benign growths of the eye
• Partially formed or completely absent ears
• Scoliosis
• Spine and rib cage deformity
• Underdeveloped jaw and cheekbones

Children with Goldenhar syndrome are born with Goldenhar, which is also known as oculo-auriculo-vertebral spectrum or OAV. Unfortunately, there is no known cause. 

At AdventHealth for Children, we work closely with children, families and leading specialists across many pediatric fields to create a plan that addresses your child’s needs. Our plastic surgery team offers advanced procedures to help heal facial deformities and help your child feel confident and comfortable in their own skin.

Children with hemifacial microsomia are born with underdeveloped tissue on one side of the face. It is the second most common facial birth defect, behind only cleft lip and palate. 

Hemifacial microsomia typically affects the ear, jaw and mouth. However, it can also affect the eye, cheek, neck, other parts of the face, nerves and soft tissues. While only one side of the face is usually affected, it’s estimated that nearly 10 to 15% of children have both sides of the face impacted, though often asymmetrically. 

Hemifacial microsomia is not a progressive disease, which means that the condition will not worsen or improve with age. The range of symptoms and severity of the condition can vary greatly between children. 

Our team will work closely with your child and family to develop a treatment plan that helps heal the body, mind and spirit. Your child’s plan may include supportive treatment at birth, such as respiratory support or occupational therapy to help improve feeding. Surgery will also likely be appropriate as your child ages. Your surgeon may not recommend some procedures until your child reaches specific milestones. 

Whatever your child’s diagnosis and whatever plan is best for them, we’ll be there by your side every step of the way. Our compassionate team is here to ease your fears, answer your questions and celebrate every accomplishment and victory along the way.

Nager syndrome is a very rare genetic condition that affects the development of the face, hands and arms. The syndrome can vary greatly between children and range in severity. The most common characteristics include: 

• Absent lower eyelids
• Absent or underdeveloped jaw
• Cleft palate
• Downward slanting eyelids 
• Hearing loss
• Malformed outer and middle ears
• Scalp hair that extends to the cheeks

Children may also have limbs defects, such as:

• Fingers that are unusually curved
• Difficulty extending elbows
• Shortened forearm
• Underdeveloped or missing thumbs

Your child’s team will work closely together to ensure they receive the appropriate care to thrive. At AdventHealth for Children, that care includes specialists across disciplines as we collaborate to find the best path forward for your child and family.

Parry-Romberg syndrome is also known as Romberg’s disease or Progressive Hemifacial Atrophy. It’s a rare progressive disorder that affects only one side of the face (usually the left side). The condition is more common in girls than in boys.

A progressive disease means it gets worse over time. In children who have Parry-Romberg syndrome, the skin and soft tissue on half the face will atrophy (or deteriorate). 

Parry-Romberg syndrome is often accompanied by neurological abnormalities, including seizures. 

At AdventHealth for Children, our team of pediatric and reconstructive surgeons and specialists and will work closely with the neurologists and neurosurgeons who deliver renowned epilepsy care for children across Florida, and beyond. We’ll bring together the experts from across disciplines to ensure your child receives the best possible care for their body, mind and spirit.

Treacher Collins Syndrome (TSC) is a rare genetic birth defect. It causes several distinct facial anomalies, including deformed ears, eyes, cheeks and palate.

The severity of the syndrome can vary greatly among children. Some areas may be more affected than others. However, some children may have mildly affected facial features, while others may have more severe or noticeable characteristics of the condition.

Unfortunately, there’s no cure for TSC. However, surgery can help minimize signs and associated symptoms. We’ll work closely with your family and our team of specialists to create a plan that’s just right for your child.