ConditionChildren's health
Craniofacial Abnormalities
Craniofacial abnormalities are differences in the shape or growth of the skull and face, present at birth or developing in early childhood. The most common are cleft lip and cleft palate, followed by craniosynostosis (early fusion of skull bones), and conditions where parts of the face are underdeveloped, such as hemifacial microsomia. They can affect breathing, feeding, hearing, speech, vision and appearance. Care by a specialist craniofacial team, often with surgery at set ages, allows most children to lead healthy, full lives.
Also called: Craniofacial anomalies, craniofacial differences, craniofacial malformations, craniofacial conditions
At a glance
- What they are
- Differences in the development of the skull and facial bones and tissues.
- Most common
- Cleft lip and/or palate, craniosynostosis, positional head flattening, hemifacial microsomia.
- Causes
- Genetic syndromes, single gene changes, environmental factors in pregnancy, often unknown.
- Problems they can cause
- Feeding, breathing, hearing, speech, dental, eye and brain growth issues.
- Care
- A multidisciplinary craniofacial team; surgery, therapy and support from birth to adulthood.
When to get help
Call 911 or go to the ER
- A baby with noisy breathing, pauses in breathing, or blue color, especially when lying on the back (possible airway obstruction)
- Choking or turning blue during feeds
See a doctor within a day or two
- Poor weight gain, very long feeds or milk coming out of the nose in a newborn
- A baby with an unusually shaped head plus vomiting, irritability, or a bulging soft spot
- Bulging eyes or eyes that cannot close fully
Book a routine appointment
- An unusual head shape, a ridge along the skull, or facial asymmetry noticed by parents
- Frequent ear infections or hearing concerns in a child with a cleft
- Nasal-sounding speech or speech delay
Common types
Cleft lip and cleft palate
A cleft is a gap in the upper lip, the roof of the mouth (palate) or both, because tissues did not join in early pregnancy. It is one of the most common birth differences, affecting about 1 in 1,000 to 1 in 700 babies. Clefts cause feeding difficulties, ear fluid and hearing loss, dental problems and speech difficulties. See cleft lip and palate.
Craniosynostosis
The skull is made of plates joined by flexible seams (sutures) that allow the brain to grow. In craniosynostosis, one or more sutures fuse too early, causing an abnormal head shape and sometimes raised pressure on the brain. It affects about 1 in 2,000 to 2,500 births.
| Fused suture | Head shape |
|---|---|
| Sagittal (top of the head) | Long and narrow (scaphocephaly), the most common |
| Metopic (forehead) | Triangular forehead (trigonocephaly) |
| Coronal (one side) | Flattened forehead on one side, asymmetry |
| Lambdoid (back) | Flattening at the back on one side, rare |
Syndromes such as Apert, Crouzon and Pfeiffer involve several sutures and the midface.
Positional plagiocephaly
A flat spot on the back or side of the head from lying in the same position. It is not true craniosynostosis and usually improves with repositioning, tummy time and sometimes a helmet.
Hemifacial microsomia and Treacher Collins syndrome
In hemifacial microsomia, one side of the face, including the jaw and ear, is underdeveloped. Treacher Collins syndrome causes underdeveloped cheekbones and jaw on both sides, downward-slanting eyes and ear differences. Both can affect breathing and hearing.
Pierre Robin sequence
A small lower jaw pushes the tongue back, blocking the airway and often causing a U-shaped cleft palate. Newborns may have breathing and feeding problems.
Other conditions
- facial clefts other than lip and palate
- vascular birthmarks and malformations of the face
- 22q11.2 deletion syndrome, with palate differences and speech problems
- microcephaly (small head) and hydrocephalus (enlarged head)
- encephalocele, where brain tissue protrudes through a skull opening
Causes and risk factors
Most craniofacial abnormalities result from a combination of genetic and environmental factors. Some are part of genetic syndromes or caused by changes in single genes (for example FGFR genes in syndromic craniosynostosis). Factors in pregnancy linked to higher risk of clefts include smoking, diabetes, some anti-seizure medicines, and low folic acid intake. Many cases have no identifiable cause.
Diagnosis
Some differences, especially cleft lip, are visible on prenatal ultrasound. Others are diagnosed at birth or as the head grows. Assessment can include:
- physical examination and head shape measurements
- skull X-rays or low-dose CT scans for craniosynostosis
- hearing tests, eye exams and sleep studies
- genetic testing and counseling
Treatment and team care
Specialist craniofacial teams typically include a craniofacial or plastic surgeon, neurosurgeon, ear, nose and throat (ENT) specialist, orthodontist and dentist, speech-language pathologist, audiologist, geneticist, psychologist and nurse coordinator.
Typical treatments include:
- Feeding support: special bottles and nipples for babies with clefts
- Airway management: positioning, airway devices or jaw-lengthening surgery
- Cleft lip repair at about 3 to 6 months, and palate repair at about 9 to 18 months
- Craniosynostosis surgery: endoscopic strip craniectomy with a molding helmet, usually before 6 months, or open cranial vault remodeling later in infancy
- Ear tubes for fluid behind the eardrums
- Speech therapy, orthodontics and later jaw surgery
- Psychological support for the child and family
Outlook
Most children with craniofacial differences grow up with normal intelligence and lead full lives, especially when cared for by an experienced team. Children with complex syndromes may need multiple surgeries and ongoing support into adulthood.
Frequently asked questions
What are the most common craniofacial abnormalities?
The most common are cleft lip and cleft palate, followed by craniosynostosis and positional head flattening. Hemifacial microsomia, Pierre Robin sequence and Treacher Collins syndrome are less common.
What causes craniofacial abnormalities?
Most are caused by a mix of genetic and environmental factors during early pregnancy. Some are part of genetic syndromes. Smoking, diabetes, certain medicines and low folic acid in pregnancy increase the risk of some types. Often no specific cause is found.
Can craniofacial abnormalities be fixed?
Many can be corrected or greatly improved with surgery and therapy. Cleft lip and palate repair and craniosynostosis surgery have excellent results. Complex conditions often need several operations over childhood and coordinated care from a specialist team.
What is a craniofacial team?
It is a group of specialists, including surgeons, dentists, speech therapists, hearing specialists, geneticists and psychologists, who work together to plan and coordinate a child's care from birth through adolescence.
Sources
This guide was written from current patient and clinical guidance, including:
- American Cleft Palate-Craniofacial Association: Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial differences
- CDC: Facts about cleft lip and cleft palate; Facts about craniosynostosis
- National Institute of Dental and Craniofacial Research: Cleft lip and palate
- MedlinePlus: Craniosynostosis
- Children's Craniofacial Association: Conditions