Craniofacial

Dr Ng Zhi Xu
Consultant Neurosurgeon

What are Craniofacial Conditions?

Craniofacial conditions represent a diverse group of anomalies affecting the bones of the skull and face. These conditions can range from mild to severe. They can influence not only the physical appearance of the person but also their ability to perform basic functions such as breathing, eating, and speaking. These conditions can be congenital, meaning present at birth, or can develop later in life due to injury, disease, or surgery.

Types of Craniofacial Anomalies

Craniofacial anomalies encompass various conditions, each affecting different parts of the face and skull. These conditions can vary significantly in their severity and impact on health and appearance. Here are some of the common types:

Cleft Lip and Palate

This common anomaly is characterised by a split in the lip and/or the roof of the mouth (palate). It affects appearance, feeding, speech, and can be associated with other health issues.

Craniosynostosis

This condition occurs when one or more of the fibrous sutures in an infant’s skull prematurely fuse by turning into bone, thereby changing the skull’s growth pattern. It can lead to brain and skull growth issues and the shape of the head and face.

Hemifacial Microsomia

Characterised by the underdevelopment of one side of the face, affecting the ear, mouth, and jaw. The severity can vary widely, from mild to significant, affecting the face and its functions.

Treacher Collins Syndrome

A genetic disorder that leads to underdeveloped facial bones, particularly affecting the cheeks, jaw, chin, and ears. It can also impact breathing, hearing, and eating.

Pierre Robin Sequence

A condition where a small lower jaw (micrognathia) leads to a tongue placed further back than average (glossoptosis), which can obstruct the airway. A cleft palate is often also present.

Apert Syndrome

A genetic disorder resulting in the fusion of skull bones, leading to a distorted shape of the head and face. It also affects the hands and feet, often causing webbed or fused fingers and toes.

Causes and Risk Factors

Genetic Factors

Many craniofacial anomalies have a genetic origin, resulting from gene mutations responsible for the development and growth of the skull and facial bones. These conditions can be inherited, occur in families with a history of craniofacial anomalies, or arise due to new mutations. Genetics play an important role in syndromes such as Crouzon, Apert, and Treacher-Collins.

Environmental Influences

Environmental factors during pregnancy can also contribute to developing craniofacial conditions. Nutritional deficiencies and maternal health conditions such as diabetes can also increase the risk.

Symptoms

The symptoms of craniofacial anomalies can vary widely depending on the specific condition and its severity. However, some common signs and symptoms may indicate the presence of a craniofacial anomaly. These include:

  • Physical Deformities: Visible abnormalities in the shape of the head, face, or features such as the ears, eyes, and nose. For instance, asymmetry in facial features or an unusually shaped skull.
  • Breathing Difficulties: Some craniofacial conditions can lead to narrowed airways, making breathing difficult. This is particularly noticeable during sleep in the form of snoring or sleep apnea.
  • Feeding Problems: Anomalies affecting the mouth and jaw can make sucking, swallowing, or chewing challenging, impacting nutritional intake and growth.
  • Speech Difficulties: Abnormalities in the structure of the mouth and throat can affect speech development, leading to delays or difficulties in speech and language.
  • Hearing Loss: Conditions that affect the ear’s structure can lead to hearing impairments or loss.
  • Dental Problems: Irregularities in jaw growth can lead to crowded or misaligned teeth, affecting dental health and the need for orthodontic treatment.

Diagnosis

Diagnosing craniofacial anomalies involves a comprehensive evaluation to accurately identify the condition and determine the best course of treatment. The diagnostic process typically includes:

A thorough examination of the head, face, and oral cavity to identify physical abnormalities. The examination may also assess functional impacts, such as breathing or feeding difficulties.

Collecting detailed medical and family histories helps to identify potential genetic patterns or risk factors associated with craniofacial anomalies.

Advanced imaging techniques, such as X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI), provide detailed images of the bones, tissues, and structures of the head and face. These images are crucial for understanding the extent and specifics of the anomaly.

When a genetic cause is suspected, genetic testing can identify mutations or genetic markers associated with specific craniofacial conditions. This information is vital for confirming a diagnosis and understanding the risk of family recurrence.

Treatment Options

The treatment of craniofacial anomalies is highly personalised, depending on the type and severity of the condition and the patient’s age and overall health. Here are some of the common treatment options:

Surgical Interventions

Surgery is a cornerstone of treatment for many craniofacial conditions, particularly correcting physical deformities and improving function. Procedures can range from reconstructive surgery to correct skull shape in craniosynostosis, cleft lip and palate repair, and jaw surgery to address facial asymmetry.

Orthodontic and Dentofacial Orthopaedic Treatments

These treatments correct dental and jaw alignment issues, which can significantly impact facial appearance and function. Techniques may include braces, expanders, and other orthodontic appliances, often in conjunction with surgical interventions.

Speech Therapy

Speech therapy is important for treating conditions affecting speech, such as cleft palate. Speech therapists work with patients to improve speech clarity and communication skills.

Hearing Interventions

For people with hearing loss associated with craniofacial anomalies, treatment may include hearing aids, cochlear implants, or surgery to improve ear structure and function.

Dr Ng Zhi Xu

Consultant Neurosurgeon

Dr Ng is a fully registered specialist in Neurosurgery, with sub-specialty interests in neurotrauma, neuro-oncology, and spine surgery.

  • Bachelor of Medicine and Bachelor of Surgery (MBBS) from Yong Loo Lin School of Medicine, National University of Singapore 2007
  • Basic Surgical Training at TTSH and KTPH 2008-2010
  • Basic Neurosurgical training NUH and KTPH 2010-2012 (Service Registrar)
  • Advanced Neurosurgical training and residency NUH 2013 – 2017
  • Fellowship training in Neurosurgery at Addenbrooke’s Hospital, Cambridge, United Kingdom from 2015 – 2016
  • Intercollegiate Fellowship of Royal Colleges of Surgery (FRCSGlasg) for Neurosurgery, 2016

During his term in KTPH, he developed a deep interest in teaching and organized numerous General Practice (GP) and nursing forums to promote the sharing of common neurosurgical conditions. While there, he was also the director for residency teaching in KTPH.

Dr Ng has done research collaborations with both National Neuroscience Institute (NNI) and NUH. He currently has ongoing research grants with NUH, which focuses on developing modified stem cell treatment for resistant brain cancers.

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    Craniofacial in Singapore

    Frequently Asked
    Questions

    Can Craniofacial Anomalies Be Prevented?

    While not all craniofacial anomalies can be prevented, avoiding certain risk factors during pregnancy, such as smoking, alcohol, and certain medications, can reduce the risk.

    Are Craniofacial Anomalies Painful?

    Some craniofacial anomalies may be associated with pain or discomfort, particularly those that affect the structure and function of the jaw or those accompanied by other medical conditions. However, many craniofacial anomalies primarily affect appearance and function without causing pain.

    Will Surgery Correct the Condition Completely?

    Surgical interventions can significantly improve appearance and function, but the outcome depends on the severity and type of anomaly. Multiple surgeries and other treatments may be needed over time.

    What Is the Outlook for People with Craniofacial Anomalies?

    The prognosis for people with craniofacial anomalies significantly depends on early diagnosis and the comprehensiveness of treatment received. Advances in medical and surgical techniques have greatly improved functional outcomes and aesthetic results, enhancing the quality of life for many affected people.