Congenital craniofacial anomalies

Last updated date: 28-Aug-2023

Originally Written in English

Congenital craniofacial anomalies


Craniofacial abnormalities (CFA) are a leading cause of newborn mortality and morbidity in children. These developmental problems can have a variety of health effects for these individuals' airways, facial appearance, brain development, hearing, sight, dentition, speech, and psychological well-being.

CFA may be linked to a variety of hereditary and environmental variables. When individuals with craniofacial abnormalities are compared to controls, their changed facial and dental appearance has a major psychological impact.


What are craniofacial anomalies?

Craniofacial abnormalities (CFA) are a set of malformations that occur during the development of the head and facial bones. Anomaly is a medical word that means "difference from normal." These anomalies are present at birth (congenital) and come in a variety of forms. Some are minor, while others are serious and necessitate surgery. Some craniofacial malformations are connected with significant defects elsewhere in the body.

Each of the congenital malformations listed here is commonly connected with a variety of genetic disorders. Due to the huge variety of syndromes, the talks concentrate on the various structural manifestations.

Some of the anomalies discussed here include:

  • Cleft palate and cleft lip
  • Craniosynostosis
  • Ear anomalies
  • Eye anomalies
  • Deformational (or positional) plagiocephaly
  • Macrocephaly
  • Microcephaly
  • Hemifacial microsomia

One of the most frequent congenital craniofacial abnormalities is cleft lip and palate (CL/P). It is defined by a failure of normal fusion of the palate and lip at the midline throughout development, resulting in a clinically evident birth deformity. Cleft lip and palate (CL/P) and cleft palate alone (CPO) are not only aesthetic defects, but they may cause considerable functional morbidity in newborns if not treated properly.


Craniofacial anomalies causes 

Most medical practitioners believe that these sorts of anomalies are caused by a combination of factors. Instead, a variety of circumstances, including the following, may contribute to their development:

  • Combination of genes. A kid may inherit a certain gene(s) combination from one or both parents. Alternatively, there might be a shift in the genes at the moment of conception. As a result, there is a craniofacial abnormality.
  • Environmental. The role of environmental factors in the development of craniofacial anomalies is not entirely understood. Environmental exposures, on the other hand, may have a role, especially when combined with genetic anomalies.
  • Folic acid deficiency. Folic acid is a B vitamin that may be found in orange juice, fortified cereals, enriched grain products, and green, leafy vegetables. According to research, women who do not get enough folic acid during pregnancy or who eat a folic acid-deficient diet may have a greater chance of delivering a baby with certain congenital abnormalities. Cleft lip and palate are two examples.


Cleft lip 

Cleft lip

Cleft lip deformity is one of the most prevalent congenital malformations, and its care necessitates an interdisciplinary approach to address the physical cleft deformity as well as the accompanying speech and swallowing difficulties. Many different varieties of cleft lip deformities can arise, frequently in tandem with a cleft palate. When a patient has an incomplete split of the lip with deformation but no separation of the white roll/vermillion border, this is referred to as an occult cleft.

Lip separation across the white roll/vermillion border and typically downward displacement of the ala are features of an incomplete cleft lip, but an intact nasal sill with a fibrous band known as a Simonart band is present. The lip and nasal sill are completely separated in a full cleft lip. Patients might also have unilateral or bilateral cleft lips.


Cleft lip causes

The nose and lip originate from embryonic features from three to six weeks gestation, which are contributions of the first and second pharyngeal arches and are known as the two lateral nasal processes, the two medial nasal processes of the frontonasal prominence, and the two maxillary processes. The nasal alae are caused by the lateral nasal processes. The nasal tip, columella, philtrum, and premaxilla are all formed by the medial nasal processes.

Cleft lips are caused by a lack of fusion of the medial nasal process of the frontal nasal prominence with the maxillary process, which frequently involves clefts of the primary palate anterior to the incisive foramen. It is worth noting that the medial nasal processes join together in the midline to create an intermaxillary segment, which connects to each of the lateral nasal processes. Clefts involving the nose can originate from any of these occurrences failing.


Cleft lip symptoms

Cleft lip symptoms

The physical appearance of people with cleft lip is easily detected on inspection after birth, thus the initial assessments take place at a young age. Concomitant cleft palate must be noted in early cleft examination since it has various consequences for feeding, swallowing, and speech. It is important to observe the cleft's breadth, whether it is unilateral or bilateral, and if it is partial or complete. Alveolar clefts should also be carefully noticed. The premaxilla may be anteriorly displaced in bilateral clefts, necessitating intervention before to surgery with naso-alveolar shaping (NAM).


Cleft lip diagnosis 

Early involvement of an interdisciplinary team and evaluation of the patient from head to toe for additional medical comorbidities and related syndromes is critical for cleft treatment. Pediatric/neonatal intensive care teams are critical to the early medical treatment of young infants. Genetic consultations are essential for individuals suspected of having an associated condition.

Any anomalies discovered should be investigated further. Speech-language therapists and nutrition consultants are frequently necessary to teach parents ways for meeting these children's particular eating demands. Feeding access is occasionally necessary with the aid of the pediatric surgical team when kids do not satisfy feeding needs for proper nutrition, which is most prevalent when there is a concurrent cleft palate.

It is critical to establish care with orthodontists, plastic surgeons, or otolaryngologists that specialize in patients with cleft lip deformity in order to determine the need for procedures and to monitor these patients long term. During the second trimester, prenatal ultrasonography may readily determine cleft deformity.


Cleft lip Management

Cleft lip Management

In neonates with a cleft lip the three major concerns are:

  • Difficulties with feeding
  • Risk of aspiration
  • Airway obstruction

Treatment of patients with cleft lip and palate necessitates a long-term commitment. Medical therapy will primarily focus on the demands resulting from any associated congenital defects, as well as dietary requirements. Naso-alveolar shaping can be used in the first few weeks to months of infancy with the help of an orthodontist. This entails the development of an orthodontic device that molds a projecting premaxillary segment and alveolar process into a more advantageous position.

This enables for alveolar segment relocation, medialization of the alar base, and columellar lengthening, allowing for simpler surgical treatment of cleft lip and nasal cleft deformities in the future. The orthodontist must make regular changes to them.

Lip taping (typically performed in individuals with less severe clefts) and lip adhesion are two more therapy adjuncts that help to reduce the severity/width of the cleft early on.

Surgical intervention for the first cleft lip is generally performed between the ages of 3 and 5 months. The "Rule of 10s" is a useful rule of thumb for determining the age at which it is acceptable to conduct primary cleft lip repair. Provided the newborn is ten weeks old, ten pounds, and hemoglobin has reached 10mg/dL, surgical repair should be safe if no other comorbidities prevent it.


Cleft palate

Cleft palate

Cleft palate is caused by a lack of development during pregnancy. Around week four, the primordial mouth, or stomodeum, begins to develop. Around the mouth, five facial prominences appear: frontonasal prominence in the midline, bilateral maxillary prominences, bilateral mandibular prominences, and bilateral maxillary prominences. The medial and lateral nasal prominences grow from the frontonasal prominence.

The two maxillary prominences will grow toward the nasal prominences throughout the next week, meeting the lateral nasal prominences to form the nasolabial area and the medial nasal prominences to form the lip. A unilateral or bilateral cleft lip results from a failure to merge at the end of week five.

The palate begins to grow during this period and is completed around week twelve. The median palatine process, also known as the major palate, is formed when the medial nasal prominences unite at the midline. Around week seven, the medial sections of the maxillary processes rotate from a vertical to a lateral position to produce the lateral palatine processes, which merge from anterior to posterior at the midline to form the secondary palate. Cleft palate is caused by a failure of midline fusion.

Ultrasound is used to make a prenatal diagnosis approximately 18 weeks gestation. However, it is heavily reliant on the expertise and skill of the ultrasound technician. Cleft lip is more effectively identified with typical 2D ultrasonography than cleft palate. 3D ultrasound has made great progress in diagnosing cleft palate in a fetus that has previously been identified with cleft lip, with 100 percent sensitivity.

Prenatal MRI is important for additional characterisation of the cleft and is utilized to evaluate for other abnormalities, particularly intracranial findings, when a CL/P has previously been diagnosed. Parental counseling and early intervention are made possible by prenatal identification.

Cleft palate is easily discovered after delivery during a neonatal checkup. Respiratory discomfort and reflux during feeding will be mentioned in the patient's history. Feeding period is typically extended as a result of baby weariness. The majority of newborns will also struggle with an adequate latch. Except in situations of a submucosal cleft, there will be a noticeable palatal defect on inspection. On palpation, they are felt as a midline defect in the hard palate.



After birth, neonates with CL/P will become involved with an interprofessional health care team including: 

  • Pediatrics/primary clinician
  • Speech therapy (SLP)
  • Genetics
  • Otolaryngology
  • Audiology
  • Social work
  • Orthodontics
  • Craniofacial surgery

The first assessment focuses on breathing and feeding concerns to ensure that the newborn can grow and develop normally until the ultimate surgical correction. Neonates should be tested for sleep apnea and parents should be advised on proper care. A qualified speech therapist will need to collaborate with parents to teach proper feeding practices and provide assistive gadgets to boost intake and minimize infant weariness during feeds.

There are a number of customized bottles and nipples available that protect the nasal passages from reflux during feeds and reduce respiratory discomfort. A dental examination should also be performed to rule out the possibility of oral prostheses to help in eating till surgery. It is crucial for the newborn to acquire weight adequately, not only for growth, but also to avoid surgical intervention delays.

Subsequent and long-term evaluations include: 

  • Audiologic assessment and management of hearing deficits
  • Otolaryngologic management of middle ear effusion with ventilation tubes and for assessment of obstructive sleep apnea as the child grows, including the possible need for adenotonsillectomy, turbinate reduction, and/or tongue reduction
  • Speech-language assessment of feeding and language development
  • Family genetic counseling and future planning
  • Dental evaluation and intervention as the child’s teeth begin to present
  • Psychosocial counseling for both parents and child


Cleft palate Management

Cleft palate Management

Surgical intervention is required for definitive treatment of cleft palate. Repair is frequently staged, with the lip being addressed first, followed by the palate. The initial surgical operation is timed according to the oft-quoted rule of tens: "10 pounds, hemoglobin of 10, and age > 10 weeks." There are various surgical treatments for repairing cleft lip and palate.

The Millard rotation-advancement approach for unilateral cleft lip and the Mulliken procedure for bilateral cleft lip are the most often used lip repairs. Palatoplasty for cleft palate with cleft lip and cleft palate alone is done later, between the ages of 9 and 15 months. 

Preoperatively, the lip is routinely taped from around one week of birth until surgery for cleft palate with cleft lip. This aids in shrinking the cleft and improving symmetry. Nasoalveolar molding (NAM) is a more aggressive alternative to lip taping that can result in a better aesthetic and functional outcome following surgery.

Lip adhesion is a surgical option for very broad clefts in order to produce a smaller cleft at the time of healing. It is rarely utilized since it necessitates an extra surgical operation. It is frequently done as early as 4-6 weeks of age. Lip adhesion is achieved by elevating rectangular mucoperiosteal lip flaps and bringing them together medially using absorbable suture.




Craniosynostosis is a birth condition in which the bones of a baby's skull fuse too soon. This occurs before the baby's brain has fully developed. The skull may become more deformed as the baby's brain develops. Sutures are flexible materials that fill the crevices between the skull bones of a normal infant.


Hemifacial microsomia (HFM)

Hemifacial microsomia

Hemifacial microsomia (HFM), also known as unilateral otomandibular dysostosis or lateral facial dysplasia, is a congenital asymmetry of the first and second branchial arches and the second most frequent craniofacial defect after cleft lip and palate. Patients have unilateral hypoplasia of the ear, facial skeleton (maxilla, mandibular, zygoma, and temporal bones), and soft tissue surrounding the ear.

A complete three-generation family history should be performed on children who appear with HFM in order to discover any anomalies that are indicative of HFM. A thorough prenatal and birth history should be collected in order to detect any maternal-fetal variables, such as gestational diabetes, maternal hypothyroidism, and any medicines or drug usage during pregnancy. Parents should be questioned whether their kid has any obstructive sleep symptoms, swallowing and eating issues, or speech development.

The physical examination should concentrate on detecting facial anomalies and asymmetries concerning the auricle, ossicles, zygoma, maxilla, mandible, jaw movement, and occlusion. Patients with HFM are more likely to have cleft lip and palate, which should be investigated. Ophthalmologic features including ocular dermoid cysts and spinal anomalies like scoliosis may suggest the more severe type of Goldenhar syndrome.


Hemifacial microsomia Diagnosis

The minimal diagnostic criteria for HFM requires either:

  1. Ipsilateral mandible and auricle defects or 
  2. Asymmetric mandible OR auricle defects with the involvement of 2 or more indirectly associated anomalies OR a positive familial history of HFM. 

For measuring face asymmetry, the posteroanterior cephalogram is the gold standard. For surgical planning, measurements like as maxillary and mandibular midline deviation, ramus height, and occlusal cant are obtained. Throughout the therapy procedure, photography is employed to chronicle the patient's face changes. Other imaging modalities, such as computed tomography (CT), have been used to analyze the size and form of the ossicles, middle ear cavity, and facial bones for preoperative planning. CT scans may be used to generate 3D face skeleton models that can be used to guide surgical device placement.

Due to underdevelopment of the throat, larynx, esophagus, mandible, and mastication muscles, many individuals with HFM experience airway and eating issues. Obstructive sleep apnea, swallowing difficulties, and cleft lip and palate were seen in 17.6 percent, 13.5 percent, and 15.9 percent of craniofacial deformity patients, respectively. As a result, HFM patients, particularly those with micrognathia and OSA symptoms, should have polysomnography and a swallow examination by a speech-language pathologist.

An audiogram to assess hearing loss, perceptual speech analysis for speech development, and a psychosocial evaluation are among the other examinations. Cervical spine radiography for vertebral anomalies, as well as renal ultrasonography for noncraniofacial deformities, should be taken. Families with questionable genetic inheritance might also benefit from chromosomal study and genetic counseling.


Hemifacial microsomia Management

Given the variety of HFM presentations, a personalized and interdisciplinary approach is required. Airway blockage and dysphagia are examples of functional limitations that should be treated initially. Patients with HFM frequently have a restricted oropharyngeal airway and nasal obstruction due to midface and mandibular hypoplasia. Difficult intubation, obstructive sleep apnea, and respiratory distress are all examples of airway difficulties.

For people with significant airway blockage, tracheotomy is the conventional therapy. Although neonatal distraction osteogenesis has been recorded, its efficacy in children with craniofacial abnormalities is lower than in those with the Pierre-Robin sequence because to the lack of catch up growth. Infants with dysphagia who are growing may also require a gastrostomy tube for nourishment.




Microcephaly is a condition in which a baby's head is significantly smaller than normal. A baby's head increases throughout pregnancy because the baby's brain grows. Microcephaly occurs when a baby's brain does not develop normally during pregnancy or stops expanding after delivery, resulting in a reduced head size. Microcephaly can occur as a solitary disorder, with no other significant birth problems, or in conjunction with other serious birth defects.

Most newborns' reasons of microcephaly are unknown. Some kids are born with microcephaly as a result of genetic abnormalities. Other causes of microcephaly, especially severe microcephaly, include the following pregnant exposures:

  • Certain infections during pregnancy, such as rubella, toxoplasmosis, or cytomegalovirus
  • Severe malnutrition, meaning a lack of nutrients or not getting enough food
  • Exposure to harmful substances, such as alcohol, certain drugs, or toxic chemicals
  • Interruption of the blood supply to the baby’s brain during development

Some microcephaly newborns have been recorded among moms who were infected with the Zika virus while pregnant. Scientists from the Centers for Disease Control and Prevention (CDC) revealed that there is enough evidence to determine that Zika virus infection during pregnancy causes microcephaly and other serious fetal brain abnormalities.


Microcephaly Treatments

Microcephaly is a permanent disorder. Microcephaly has no recognized cure or conventional therapy. Because the severity of microcephaly varies, so do the treatment choices. Babies with moderate microcephaly frequently have no additional abnormalities than their tiny head size. These infants will require regular check-ups to monitor their growth and development.




A head circumference (the measurement around the widest region of the head) larger than the 98th percentile on the growth chart is considered macrocephaly. Because of your child's growing head circumference, your primary care physician may send you to a pediatric neurosurgeon.

Causes of macrocephaly include:

  • Benign familial macrocephaly – other family members with big heads (inherited)
  • Excess fluid in the brain – benign extra-axial fluid of infancy or hydrocephalus

If your child does not exhibit signs or symptoms of increasing intracranial pressure, such as a tense, bulging anterior fontanelle (soft spot), unusual eye movements, projectile vomiting, increased irritability, or a high-pitched cry, a follow-up appointment with a pediatric neurosurgeon in three months may be recommended.


Diagnosis of Craniofacial Abnormalities

Some of these disorders are noticeable from birth, while others do not become apparent until a baby's head becomes larger throughout the first few months. The majority of the time, your doctor can detect a craniofacial anomaly just by looking at you. An MRI or CT scan of your child's skull, brain, and facial anatomy can assist clarify the diagnosis.

Babies' skulls develop fast throughout the first year of life, therefore these problems are more likely to be recognized and treated during this time. Your physician may advise you to keep your kid under observation for a few weeks or months to observe whether his or her health worsens. You may be sent to a neurosurgeon, who will collaborate with you to design the best treatment plan for your kid.


Treatment for Craniofacial Abnormalities

Treatment for Craniofacial Abnormalities

  • Craniofacial Surgery

Your doctor may prescribe surgery to address the physical construction of the skull and facial bones and enhance usefulness for your kid if your child has genuine craniosynostosis or other abnormalities.

These procedures can be complicated and time-consuming, requiring the removal, remodeling, and replacement of sections of the skull. Pediatric neurosurgeons may collaborate with pediatric craniofacial plastic surgeons to get the best possible outcome.

Sutures, wires, tiny screws, or plates may be used by surgeons to anchor the bone and protect the brain as your kid develops. These materials are frequently too tiny to be felt beneath the skin.

  • Minimally Invasive Surgery

If your child's abnormality is discovered before he or she reaches the age of three months, the surgical team may be able to employ one of many less invasive techniques. When compared to open surgery, these endoscopic techniques can reduce the risks of blood transfusions and problems while also allowing your kid to recuperate faster.

Helmet treatment, in which your child wears a customized helmet to gently guide the growing skull bones into place so they may fuse more naturally, may be used after minimally invasive surgeries.



Congenital craniofacial anomalies surgery

Craniofacial is a medical word that refers to the skull and face bones. Craniofacial anomalies are facial or head birth malformations. Some congenital abnormalities, such as cleft lip and palate, are among the most prevalent. Others are extremely rare. The majority of them have an impact on how a person's face or head appears. These disorders may also have an impact on other sections of the body.

Treatment is determined by the nature of the problem. Plastic and reconstructive surgery may improve a person's physical appearance.