Rare Craniofacial Clefts

Rare craniofacial clefts are severe deformities of the face and head that affect both bones and soft tissues. Clefts are formed in utero when normal development of a baby’s head and neck are disrupted and parts of the face fail to fuse together, creating facial and/or cranial differences.

Rare craniofacial clefts occur in about 1 in every 150,000 births. These clefts are present in various syndromes, but can also occur unrelated to a syndrome.

Rare facial clefts fall into three main categories:

• Clefts through the center of the face, which can create uneven eyes and other defects
• Oro-nasal-ocular clefts, which involve the mouth, nose and eyes
• Lateral clefts associated with Treacher Collins syndrome, hemifacial microsomia and other syndromes that are characterized by gross abnormalities of the lower jaw

These clefts are named and numbered (0-14) for the anatomy affected and include clefts of the lip, mid-face, orbit (the eye socket), mandible and cranium. Clefts 0 – 7 typically involve the lower face (below the mid axis of the eye), while clefts 8 – 14 involve the upper face (above the mid axis of the eye) and cranium.

In some cases, different types of clefts occur together, with a cleft of the lower face continuing into a cleft of the upper face.

• No. 0 — upper median facio cranial cleft: involves the upper lip, nose and forehead
• No. 1 — oblique facio cranial cleft: involves the upper lip and nose
• No. 2 — oblique facio cranial cleft: involves the upper lip, nose and eyelids
• Nos. 3 – 5 — oblique facio cranial clefts: involves the upper lip, mid-face and eyelids
• No. 6 — oblique facio cranial cleft: involves the upper lip, mid-face, outside corners of the eyes and temples
• No. 7 — oblique facio cranial cleft: involves the mid-face and ear
• No. 8 — transverse medial ocular facio cranial cleft: involves the mid-face, inside corners of the eyes and nose
• No. 9 — lateral ocular transverse facio cranial cleft: involves the outside corners of the eyes and temples
• No. 10 — first branchial cleft anomaly: involves the neck and ear
• No. 11 — second branchial cleft anomaly: involves the neck and mouth
• No. 12 — third branchial cleft anomaly: involves the neck and mouth
• No. 13 — fourth branchial cleft anomaly: involves the neck and mouth
• No. 14 — lower median facio cervical and tongue cleft (also known as glossoschisis): involves the lower lip and tongue
• Tessier 30 cleft — lower midline facial cleft (also known as the median mandibular cleft): involves the lower lip, chin and mandible

The causes of rare craniofacial clefts are varied. Some are genetic and are passed down to children through their parents’ genes. Some are linked to multi-symptom syndromes (such as Treacher Collins syndrome) that cause facial differences and other medical issues. Some are caused by a traumatic injury during prenatal development. Others are idiopathic, meaning that the origin of the anomaly is unknown.

Symptoms of rare craniofacial clefts are as diverse as the number of facial areas that can be affected. For example, a child with a mild mid-facial cleft may have a bifid nose, a malformation characterized by the nose being divided into two parts, but otherwise normal appearance. A child with a severe mid-facial cleft may have a double cleft lip, cleft palate, cleft nose and eye differences.

Children with rare craniofacial clefts may have:

• Facial asymmetry (sides of the face don’t mirror each other)
• Differences in the base of the skull
• Cleft lip and cleft palate
• Hypoplastic maxilla (unusually small upper jaw)
• Cleft nose or distortion of the nasal skeleton
• Bifid nose
• Orbital hypertelorism (eyes unusually far apart)
• Orbital dystopia (eyes that are uneven)
• Small or underdeveloped eyes
• Clefting into the orbital floor (base of the eye socket and lower eyelid)
• Abnormalities of the eyelids and eyebrows

The diagnosis of a rare craniofacial cleft can be made before or after birth. Some of the abnormal facial or cranial features may be visible during prenatal ultrasound. If you are pregnant and your unborn child has these distinctive characteristics, you may be referred to CHOP’s Center for Fetal Diagnosis and Treatment.

Most children are not diagnosed with a rare craniofacial cleft until after birth. In this case, experts from CHOP’s Craniofacial Program will evaluate your child using diagnostic tests such as X-rays and CT scans to better examine your child’s bone and cartilage structure in order to make appropriate treatment recommendations.

The treatment of rare craniofacial clefts varies tremendously from patient to patient and depends on the severity of the condition and long-term needs of the child. Consultation with an experienced craniofacial team is extremely important in achieving the best outcomes for your child.

At CHOP — where we have expertise in every pediatric specialty — your child will have access to a multidisciplinary healthcare team and coordinated care through our Craniofacial Program. We will work with you to prioritize your child’s needs and establish a comprehensive treatment plan that addresses both physical and psychosocial needs, including planning for staged surgical repair and reconstruction.

Timing can be a critical factor in treatment of rare craniofacial clefts. In some cases, treatment can wait until your child reaches certain developmental milestones. In other cases, the need for treatment is urgent.

Urgent care for rare craniofacial clefts

Children born with rare craniofacial clefts frequently have immediate feeding issues, along with associated airway and breathing issues. Prompt attention by a dedicated craniofacial team is critical to stabilize your child and provide any supplemental oxygen or respiratory care needed. Your child may also need supplemental feedings by nasogastric tube. Once stabilized, he can be prepared for future treatments. Most children go on to have their cleft repaired within the first few months of life.

Children with a rare cleft that involves the eye may have acute ophthalmologic needs, ranging from issues with lubrication and moisture chambers, to more serious conditions that require urgent operative procedures to provide protection for the eye, cornea and its contents.

Surgery for rare craniofacial clefts

Surgical repair of rare craniofacial clefts takes on many forms. For example, simple clefts of the upper lip can be addressed with a straightforward repair. For more severe clefts that involve the eye and cranium, extensive tissue rearrangement — with skin flaps and skin grafts — may be required. Occasionally, intracranial procedures may be performed to move bones into position.

In most cases, the first stage of treatment includes soft tissue repair. Bone grafting or osteotomies are performed when the child is older — much like the standard timing for repair of cleft lip or and cleft palate.

The timing and types of procedures for these rare clefts vary from child to child. Consult with a qualified cleft and craniofacial team for answers about your child’s condition.

As your child with rare craniofacial clefts grows into adolescence, he should continue to be monitored by experienced physicians who can adjust treatment plans as needed.

CHOP’s Craniofacial Program brings together the many specialists your child may need to see, including:

• A plastic surgeon to manage the stages of surgical repair
• An otolaryngologist (ear, nose and throat specialist) to monitor and treat any nose or throat issues
• A speech therapist to address any speech problems
• An expert from the Pediatric Feeding and Swallowing Center to address any feeding-related issues
• A dentist and/or orthodontist to assess dental health, crowding of teeth and how well the jaw fits together
• A psychologist or social worker to address emotional and psychological issues related to appearance differences and any other concerns

During follow-up visits, diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop, optimizing long-term outcomes for your child.

Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

Treatment of rare craniofacial clefts depends on the severity of the condition and long-term needs of the child. Consultation with an experienced craniofacial team is extremely important in achieving the best outcomes for your child.

At CHOP, children with rare craniofacial clefts have access to the nation’s top pediatric specialists and coordinated care through our Craniofacial Program. Our team works closely with parents and referring physicians to addresses both physical and psychosocial needs associated with these rare conditions, including surgical repair, feeding and breathing support, orthodontic needs, speech therapy and long-term follow-up care.

Reviewed by: Scott Bartlett, MD and Jesse Taylor, MD
Date: February 2014