Craniofacial anomalies, also known as craniofacial disorders or craniofacial malformations, refer to a group of congenital (present at birth) conditions that affect the structure and development of the head and face. These anomalies can involve bones, soft tissues, or both and may lead to various facial differences. The severity of craniofacial anomalies can vary significantly, ranging from mild cosmetic issues to severe functional and health-related concerns. The global incidence of craniofacial anomalies is approximately 1 in 20000 live births. In other words, in a country like India, there are 30 children born with a craniofacial condition every day. Early Diagnosis and treatment when required may allow these children to express their full potential
The skull is made up of several bone plates, which are separated from each other by small gaps called cranial sutures. These sutures coordinate growth between the brain and the skull, allowing the skull to grow as the brain develops. The sutures usually remain open and functional until adulthood. An individual has two coronal sutures, two lambdoid sutures, one metopic suture, and one sagittal suture.
Craniosynostosis is a rare congenital abnormality that affects approximately 1 in 3,000 children, causing premature or early fusion of one or more of the baby’s cranial sutures during pregnancy. This abnormality can cause the skull and head shape to grow abnormally, leading to appearance-related issues. If left untreated, it may occasionally lead to pressure on the growing brain due to lack of space, potentially resulting in significant regular headaches and, in extreme cases, fits and seizures, along with damage to vision and development. The fusion of a specific suture will produce different predictable head shapes.
Sagittal Synostosis refers to the fusion of the central suture running from one fontanelle (open gap in your child’s skull) to another
The open space is normally diamond-shaped, but it is often triangular in children with this condition.
The head is long from front to back and narrow from side to side. The forehead is prominent and bossed, and the back of the head is prominent and pointed.
This is one of the most common synostosis but is often misdiagnosed in India.
Unicoronal Craniosynostosis refers to the fusion of one of the two coronal sutures.
In this condition, there is a flattening of the forehead on one side, known as plagiocephaly.
The affected eyebrow appears more elevated, while the eye looks wider open than the opposite side. When viewed from above, the shape of the skull appears like a trapezium. Additionally, the distance between the ear and the eye on the affected side is shorter than the unaffected side. The condition also causes facial asymmetry, with the nose and chin deviated to the opposite side.
Metopic Craniosynostosis refers to the fusion of the growing line between the forehead.
This is the second most common suture to fuse and occurs in approximately 1 in 10,000 live births. It is commoner in boys than girls. Metopic synostosis leads to a forehead which is triangular (called trigonocephaly) with a tendency for the eyes to appear closer together than normal
Syndromic Single Suture Synostosis refers to conditions with a single fused growing line but has a known gene associated with the condition. These conditions require detailed evaluation and may have more associated conditions. Also, these children might need a closer observation following the surgery.
Bicoronal Craniosynostosis refers to the fusion of both coronal sutures and is much more likely to be genetic in origin than unicoronal synostosis or other single sutures.
In Bicoronal synostosis, the skull is broad and short from front to back with a flat forehead called brachycephaly or sometimes grows tall, called turricephaly.
1:2500 births may be affected by this congenital anomaly and this is one of the second most common craniofacial anomaly after cleft lip and palate.
In this condition, one side of the face is underdeveloped, leading to asymmetry between the left and right sides of the face. Timing of surgery is important and an appropriate treatment algorithm improves outcomes. The condition may involve the eye socket, ear, lower jaw, soft tissue of the face and the nerve supplying the face muscles. A child with ear tags or deformed ear at birth needs to undergo detailed examination for this condition.
Treacher Collins syndrome is a genetic birth disorder characterized by the premature joining of certain skull bones during development, which affects the shape of the head and face. Most children with Treacher-Collins syndrome are of normal intelligence.
Common features of this syndrome include:
Apert syndrome is a rare genetic syndromic form of craniosynostosis and occurs in 1 in 65,000 live births leading to a combination of craniofacial and limb abnormalities. The craniofacial features include brachycephaly (caused by bicoronal synostosis), shallow eye sockets making the eyes appear bulging and poor midfacial growth leading to an underdeveloped upper jaw and potential breathing problems such as sleep apnea. Some cases have associated cleft palate. The limb features include complex symmetrical syndactyly (fusion of the fingers and toes). This requires surgery from a specialist hand surgeon affiliated to and working closely with the craniofacial team.
Crouzon syndrome is a rare genetic syndromic form of craniosynostosis and occurs in 1 in 60,000 live births. The craniofacial features (which can range from mild to severe) include brachycephaly (caused by bi-coronal synostosis), shallow eye sockets (this is called exorbitism), making the eye appear bulging and poor midfacial growth leading to an underdeveloped upper jaw and potential breathing problems such as sleep apnoea. The limbs are essentially normal in Crouzon syndrome.
Individuals with Crouzon syndrome usually have normal intelligence.
Also known as orbital hypertelorism, is an abnormally increased distance between the orbits (the bony sockets holding the eyes).
This condition could be associated with different syndromes and based on its presentation the treatment needs to be designed.
It is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. The craniofacial surgeon helps the neurosurgeon in closing the bony defect and addressing any eye(orbital) displacement that may be present
For certain craniofacial anomalies, such as minor cleft lip or palate cases, surgery can be very effective in correcting the issue, and the outcome is often quite successful, leading to improved function and appearance. These procedures are typically performed early in a child's life, and with proper medical care and follow-up, the child can grow up with minimal ongoing issues related to the anomaly.
On the other hand, more complex craniofacial anomalies, such as certain types of craniosynostosis or severe facial asymmetry, may require multiple surgeries over a longer period to achieve optimal results. A team of experts from various fields ensures that these children can fully express their potential.
Globally, this condition is considered as one of the most challenging and is treated only in highly specialized units. The United Kingdom, for instance, has only four centers dedicated to providing craniofacial care for the entire country.
Craniofacial care in India remains scattered, with very few teams able to handle these conditions regularly and treat them free of cost. The training required to perform these surgeries is long and demanding, and in a country like India, it is not surprising that most medical professionals have avoided this specialty. At the Bhagwan Mahaveer Jain Hospital, we have the right team to offer this complex care. The reason to do this is due to the existing track record of the Smile Train Project that we have successfully run for the last 18 years. Smile Train funds all our cleft lip and palate patients and they receive surgeries, dental care, nutritional care, speech therapy, and clinical psychology free of cost. This multidisciplinary team has worked relentlessly to provide world-class treatment and Smile Train recognized our efforts and has now given us the Cleft Leadership Center Status. This is the only such unit in India and one of the seven in the world
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