Breathing and Feeding: The First Priorities

In the first few months of life, the most critical focus for a baby with Apert syndrome is ensuring they can breathe and eat safely. Because the bones of the face and airway develop differently, these basic functions often require extra support and specialized care.

Understanding Airway Challenges

Babies with Apert syndrome often experience Obstructive Sleep Apnea (OSA), a condition where the airway partially or fully closes during sleep ^[1]. This happens because:

• Midface Hypoplasia: The small, “underdeveloped” middle part of the face creates less room in the nose and throat ^[1][2].
• Narrow Passages: The space behind the nose and at the back of the throat is often significantly reduced ^[2].

If your baby has the S252W mutation, they may be at a higher risk for more severe sleep apnea ^[1]. Monitoring usually involves a polysomnography (sleep study) to measure how well your baby breathes at night. While awaiting midface growth or surgery, some infants may require temporary non-surgical airway support at night, such as a CPAP or BiPAP machine, to help keep the airway open.

Tracheal Cartilaginous Sleeve (TCS)

A less common but very serious airway complication is Tracheal Cartilaginous Sleeve (TCS). In a typical airway, the windpipe (trachea) is made of separate C-shaped rings of cartilage that allow it to be flexible. In TCS, these rings are fused into a solid, rigid “sleeve” ^[3].

• Diagnosis: The gold standard for diagnosing TCS is a combination of bronchoscopy (using a tiny camera to look inside the airway) and a CT scan. However, tracheal ultrasound is also emerging as an innovative, non-invasive way to screen for this without sedation ^[4][5].
• Management: If the windpipe is dangerously narrow, a surgery called slide tracheoplasty may be performed ^[6]. During this procedure, surgeons carefully reshape the windpipe to create a wider, more stable and durable airway ^[6].

Feeding and Nutrition

Feeding a newborn with Apert syndrome can be challenging due to both the shape of the face and the potential for a cleft palate (an opening in the roof of the mouth) ^[7][8].

• Inefficient Sucking: The small upper jaw and high-arched palate can make it hard for a baby to create the suction needed for breastfeeding or standard bottles ^[9].
• Cleft Palate Support: If a cleft is present, milk may leak into the nose during feeding. Specialized bottles, such as the Haberman feeder, use one-way valves to allow milk to flow with very little suction.
• Feeding Plates: In some cases, a pediatric dentist may create a “feeding plate”—a custom plastic insert that fits into the roof of the mouth to help the baby swallow more effectively ^[10].

Because these babies often work harder just to breathe, they may burn more calories than they take in. Your team will monitor your baby’s weight closely to ensure they are thriving ^[11].