Overview

Congenital or birth abnormalities include a wide range of deformities, from mild to disfiguring clefts (a gap or split). One of the world's most populous areas, the Indian subcontinent still has between 27,000 and 33,000 births each year with clefts. These birth defects significantly impact a child's development and ability to do basic things.¹

In this article, we will talk about a birth anomaly that affects the middle part of the face known as frontonasal dysplasia or median cleft face syndrome.

What is frontonasal dysplasia?

It is a rare disorder that causes deformity in the head and face during embryological development (from the implantation of the fertilized egg to the 10th week of pregnancy, when the embryo becomes a fetus).²

Physical traits of a child with frontonasal dysplasia include:

• Widely separated eyes (ocular hypertelorism)
• A broad and flat nose
• A vertical midline cleft of the nose or upper lip
• The nose tip may be missing in some cases
• In some cases, there is an abnormal skin-covered gap in the front of the head known as the anterior cranium occultum
• V-shaped hairline (widow`s peak)
• Encephalocele (a skull opening with protruding brain)

How will this influence physical development and function?

This condition can significantly affect an infant's physical development and other abilities. It is important to understand these effects so that they can be detected and treated earlier.

Physical development

Facial and cranial malformations

• Facial structure: Infants with frontonasal dysplasia present with various facial anomalies, such as a broad and flat nose, widely spaced eyes, sectioning of the nose with a deep vertical groove running through its centre, and many more that we previously discussed
• Abnormalities of the skull: The condition may also affect the development of the skull, which can cause issues with the shape or size of the head. This can be due to premature closure of cranial sutures or other disruptions in skull development

Cleft lip and palate

In addition to frontonasal dysplasia, many infants are born with cleft lip and/or cleft palate which is a result of incomplete fusion of the lip or palatal tissues. This condition can cause feeding and speech difficulties, as well as dental problems.

Growth and development delays

Infants with frontonasal dysplasia may have delayed growth patterns. This could be due to feeding difficulties and inadequate nutritional intake due to facial clefts. 

Functional impacts

Feeding and nutrition

Common feeding issues include difficulty sucking, swallowing, and achieving an effective latch during breastfeeding or bottle feeding. Besides this, reflux in the throat, choking, longer feeding times, and slow or no weight gain of the infant are commonly seen.

Speech and language development

Structural abnormalities in the oral and nasal cavities can interfere with speech and language development. A cleft palate can result in speech delays by impairing the basic sounds.

Psychological and social impact

The visible facial differences associated with frontonasal dysplasia can impact a child's social and emotional development with time. Children may become more conscious of their appearance as they grow, affecting their self-esteem and social relationships. 

Nutritional and feeding challenges in frontonasal dysplasia

Structural and functional challenges

A wide range of nutritional and feeding concerns in children with frontonasal dysplasia are commonly seen because of the associated deformities, such as:

• Cleft lip or palate: Cleft lip or palate is often associated with frontonasal dysplasia. It impairs the ability to create an effective seal for sucking and swallowing

One of the primary feeding concerns is the formation of negative air pressure, which is required for proper swallowing. Failure to create negative air pressure can lead to aspiration or choking during a swallow.

• Maxillary hypoplasia: An underdeveloped maxilla (upper jaw) can interfere with tooth alignment and chewing ability, posing challenges with solid food intake in later developmental stages of the child as he/she grows
• Facial deformities: The overall functionality of the oral cavity, including the alignment of the jaw and the movement of the tongue, can be negatively impacted by facial deformities. Some examples of structural abnormalities include a broad nasal bridge and wide-set eyes

Feeding concerns

Various feeding concerns in affected children are:

Infants with a cleft lip or palate may have difficulty adhering to breastfeeding, as they are unable to form a proper seal to latch onto the breast. Lack of negative intraoral pressure during suction causes nasal regurgitation, excessive air intake, fatigue, choking, exhausting feeds, frequent burping, and mother discomfort.

This can result in inefficient feeding, prolonged feeding time, inadequate weight gain, and maternal frustration.

Nutritional challenge

Inadequate caloric intake and nutritional deficiencies, compromising the child's nutritional needs. Feeding difficulties lead to insufficient food intake, thereby causing deleterious effects on their overall development, leading to malnutrition and death in some cases.

How to address these challenges?

Early intervention is critical for addressing the various challenges that arise and lowering failure-to-thrive rates. It takes many forms, such as feeding equipment, techniques, prostheses, and nutrition/lactation advice. 

Early education combined with a nutrition intervention protocol can improve outcomes for cleft infants, such as weight gain, feed velocity, and fluid intake.

Assessment and monitoring

Regular assessments by a multidisciplinary team for corrective action and management are ideal in such cases. The team consists of social workers, nurses, caregivers, and specialists from various fields. The team's responsibilities include evaluating the infant's feeding ability, monitoring the infant's clinical status, communicating with parents, hospitalization, and reducing the mother's stress and pressure.

Specialized feeding techniques

With lactation advice about how to position the baby correctly, the mother can choose to breastfeed, bottle feed, spoon feed, cup feed, or use a combination of these. For babies with cleft palates, it may be hard to breastfeed, but the mother can express her milk and give it to the baby through a bottle. 

Use of modified nipples and bottles for infants

Specially made bottles for feeding babies come in a lot of different styles. These bottles are made of soft, squeezable plastic, which allows milk to be drawn from the bottle with minimal pressure. 

Nutritional interventions

Nutrition is the top priority for a child with these clefts, just like it is for any other child. These children have certain physical limitations. To thrive and grow, these children require modifications to meet their nutritional needs. During the first few months of life, making sure babies get enough food is the most important thing. Failure to meet these needs could endanger the children's lives.

A diet that is high in calories and rich in nutrients is an option that can be considered as the child develops. In later stages, supplements and fortified products can help to meet nutritional requirements.

Surgical and medical interventions

Severe cases require surgical and medical interventions. Cleft repair surgery and prosthetic options like obturators can help address a variety of related issues.

Family support and education

Proper counselling and training available about the right way to feed is crucial for the well-being of the patients. If the parents are unable to follow these instructions, feeding obturators, along with hygiene instructions, can be recommended.

Long-term management and follow-up

As the child grows, it is important to maintain regular follow-up appointments with healthcare providers and to make adjustments to the child's recommended diet.

It is important to address both the emerging issues that come with as well as the changes in feeding requirements that come with ageing. Management of any developing health concerns.

Summary

Proper care is critical for improving the quality of life and development of infants born with congenital anomalies. This can be accomplished by making feeding modifications or using actual prosthetics. Some changes that can be made to feeding are changing the texture of the food given to the baby, changing the way breastfeeding is done, or even changing the shape of the feeding bottles. These modifications are critical for ensuring that the infant receives adequate nutrition for normal growth and before surgery in severe cases.