Congenital Craniofacial Defects
Nothing compares to the joy of expecting parents earnestly looking at the vague image on the ultrasound to discover what gender (sex) their child has. It’s such an exciting moment that Reveal Parties have become commonplace everywhere. For decades now, commercials and other popular media similarly celebrate the wonder that is a life that’s about to see the world.
All the smiles and giggles can quickly be turned when they also find out, through that same ultrasound, that their little angel will be born with a cleft lip and/or palate (or potentially other craniofacial anomalies). Treatments for this are necessary and vary from a case to case basis. Extending beyond aesthetic considerations, functional defects are a real concern as they can drastically alter one’s lifestyle and make it difficult growing up.
Source: The Children's Hospital of Philadelphia
What is it
Congenital Craniofacial Defects are deformities that affect a child’s head and facial bones. For the purpose of this article, Defect/Anomaly is a medical term that means “irregularity” or “different from normal.” These defects are typically present at birth and cases can range from mild to severe. Some craniofacial defects are associated with anomalies in other parts of the body, which can be serious.
What causes it
It is a common opinion among the medical professional community that these types of defects have multiple varying factors that contribute towards the development of such cases. Some of them are the following:
Genetic combination - A child will receive a particular combination of gene(s) from one or both parents. There may also be a change in the genetic makeup at the time of conception. This may result in a craniofacial defect.
Environmental factors - While it is not yet fully understood how the child’s exposure to the environment affects the development of these anomalies, these may still play a role in combination with genetic defects.
Folic acid deficiency - Also known as Vitamin B9 which can be gotten from orange juices, fortified breakfast cereals, enriched grain products, and green, leafy vegetables. Recent studies have shown that pregnant women who do not have sufficient folic acid intake, or have a diet that lacks in folic acid, may have a higher risk of having a baby born with certain congenital defects.
What it may look like
Occurring in approximately 1 in every 700 live births, cleft lip and cleft palate are fairly easy to identify. In this section, we will explore other common craniofacial defects that occur at birth.
Apert Syndrome - A genetic disorder distinguished by abnormalities in head size and shape and fused fingers and toes.
Cleft lip - A defect in which the lip does not form completely. The degree can greatly vary ranging from mild (notching of the lip) to severe (large opening from the lip up through the nose).
Cleft palate - A condition where the roof of the mouth does not completely close which leaves an opening that may extend into the nasal cavity. The cleft may involve the lip and/or either side of the palate, and can also extend from the front of the mouth (hard palate) and/or to the throat (soft palate).
Craniosynostosis - Happens when the soft spots (sutures) in the skull of an infant closes prematurely. This causes problems with normal brain and skull growth as it builds up pressure inside of the head leading to facial bones changing from a normal, symmetrical appearance.
Crouzon Syndrome - A condition that affects the skull, face, and heart. It is a genetic syndrome, which is due to a mutation on the FGFR2 or FGFR3 gene.
Deformational (or positional) plagiocephaly - An asymmetrical shape of the head from repeated pressure to the same area of the head. Stemming from Greek terminology, plagiocephaly literally means “oblique head” (“plagio” for oblique, and “cephale” for head).
Facial paralysis - Refers to the complete lack of motion of part or all of the face. Potentially involving one or both sides of the face, this decreased or lack of motion causes asymmetry and may lead to both functional and social interaction issues.
Hemifacial microsomia - A defect where the tissues on one side of the face are underdeveloped which mostly affects the ear, mouth, and jaw areas. More severe cases involve both sides of the face and/or the skull. Also known as: Goldenhar syndrome, branchial arch syndrome, facio-auriculo-vertebral syndrome, oculo-auriculo-vertebral spectrum, or lateral facial dysplasia.
Microtia - A deformity where one or both ears are underdeveloped externally. Treatment seeks to rebuild external ear structures and restore hearing.
Pierre Robin Syndrome - A condition associated with the child having a small jaw (micrognathia), cleft palate and obstructed airway due to improper growth of the tongue (glossoptosis).
Vascular malformation - This is a birthmark or growth that is composed of blood vessels which can cause functional or aesthetic problems when left untreated. This may involve multiple body systems and is named according to which blood vessel is mostly affected. Also known as: lymphangiomas, arteriovenous malformations, and vascular gigantism.
Hemangioma - This refers to an abnormally growing blood vessel in the skin that is indicated by a faint red mark, commonly appearing in the first months after birth. Also known as: port wine stain, strawberry hemangioma, and salmon patch.
What to expect during a Clinic Visit
At your first visit, your doctor will carefully examine your child and explain the diagnosis, including the plan for their overall care.
Test results (ie. CT scans, MRI and X-rays) related to your child’s condition will also be studied.
Any photos you have of your child’s head looking like it has an unusual shape which would help in seeing how it developed over time.
Your child’s prescription, if any. You may also provide nonprescription items like vitamins.
Your child will be weighed and measured during most visits.
A medical photographer will ask for your permission to take photos for your child’s medical record. This is a vital reference to the progress of the treatments over time.
One of your appointments will be to learn about your child’s care.
Congenital craniofacial defects may likely require treatment from different specialists since the healing process is more complex for a growing child. It is not uncommon to have more than 1 appointment as the focus is to properly address all immediate and foreseeable factors related to your child’s recovery.
Read more: Congenital Craniofacial Surgery
References:
Boston Children's Hospital. “Craniofacial Anomalies.” https://www.childrenshospital.org/conditions-and-treatments/conditions/c/craniofacial-anomalies. Accessed 22 December 2020.
Boyadjiev Boyd, MD, Simeon A. “Overview of Congenital Craniofacial Abnormalities.” MSD Manual, https://www.msdmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/overview-of-congenital-craniofacial-abnormalities. Accessed 22 December 2020.
Clinician Reviews. “Congenital craniofacial deformities.” MD Edge, 26 August 2016, https://www.mdedge.com/clinicianreviews/article/110832/dermatology/congenital-craniofacial-deformities. Accessed 22 December 2020.
Jasmin, Luc, MD, and Rita Sather, RN. “Overview of Craniofacial Anomalies.” Health Encyclopedia, University of Rochester Medical Center, https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p01830. Accessed 22 December 2020.
Mueller, Kathryn. “Helping Kids With Cleft Lip and Palate Thrive.” On the Pulse, Seattle Children's, 18 December 2017, https://pulse.seattlechildrens.org/helping-kids-with-cleft-lip-and-palate-thrive/. Accessed 22 December 2020.
Seattle Children’s. “Craniofacial Center: What to Expect.” https://www.seattlechildrens.org/clinics/craniofacial/what-to-expect/. Accessed 22 December 2020.
Nationwide Children’s Hospital. “Craniofacial Anomalies: Diagnoses and Conditions Treated.” https://www.nationwidechildrens.org/specialties/center-for-complex-craniofacial-disorders/about-craniofacial-anomalies. Accessed 22 December 2020.