Apert Syndrome
Apert syndrome is a rare genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis), midface underdevelopment, and fusion of the fingers and toes (syndactyly). Children with Apert syndrome require a multidisciplinary team approach with staged surgeries over many years.
Clinical Features
Craniosynostosis — typically bilateral coronal suture fusion, causing a tall, flat skull
Midface hypoplasia — underdeveloped midface with shallow eye sockets and a concave facial profile
Syndactyly — fusion of fingers and toes (often complex, involving bone fusion)
Elevated intracranial pressure in many cases
Obstructive sleep apnea due to midface retrusion and narrow airway
Hearing loss and chronic ear infections
Dental crowding and malocclusion
Variable cognitive development (many children have normal intelligence with appropriate intervention)
Treatment Options
Cranial Vault Remodeling (6–12 months)
Surgical reshaping of the skull to relieve intracranial pressure and improve head shape. This is typically the first major surgery.
Hand Surgery for Syndactyly
Staged surgeries to separate fused fingers and improve hand function. Typically performed in the first 1–2 years of life.
Midface Advancement (4–12 years)
Le Fort III osteotomy or monobloc advancement with distraction osteogenesis to move the midface forward, improving breathing, eye protection, and facial appearance.
Orthognathic Surgery (teens)
Jaw surgery after facial growth is complete to correct bite alignment and facial proportions.
Rhinoplasty & Refinement
Nasal surgery and other soft tissue refinements to improve facial aesthetics after skeletal procedures are complete.
Crouzon Syndrome
Crouzon syndrome is a genetic condition characterized by premature fusion of skull sutures and underdevelopment of the midface. Unlike Apert syndrome, Crouzon syndrome does not involve hand or foot anomalies. The severity varies widely, and treatment is tailored to each child's specific needs.
Clinical Features
Craniosynostosis — often multiple sutures involved (coronal, sagittal, lambdoid)
Midface hypoplasia — flat or concave midface with shallow eye sockets
Proptosis — bulging eyes due to shallow orbits, increasing risk of corneal exposure
Obstructive sleep apnea from midface retrusion
Possible hydrocephalus (excess fluid around the brain)
Hearing loss (conductive) from middle ear abnormalities
Normal hands and feet (distinguishing feature from Apert syndrome)
Usually normal intelligence
Treatment Options
Cranial Vault Remodeling
Reshaping of the skull to relieve intracranial pressure and normalize head shape. May include posterior vault distraction for severe cases.
VP Shunt (if needed)
If hydrocephalus is present, a ventriculoperitoneal shunt may be placed to drain excess cerebrospinal fluid.
Midface Advancement / Le Fort III
Surgical advancement of the midface using distraction osteogenesis to improve breathing, protect the eyes, and enhance facial appearance.
Orbital Decompression
If the eyes are severely protruding, surgery to enlarge the eye sockets may be needed to protect the corneas.
Orthognathic Surgery & Rhinoplasty
Final surgical refinements after facial growth is complete to optimize bite alignment and nasal appearance.
Treacher Collins Syndrome
Treacher Collins syndrome (mandibulofacial dysostosis) is a genetic condition that affects the development of bones and tissues of the face. It is characterized by underdeveloped cheekbones and jawbone, downward-slanting eyes, and ear deformities. The severity varies greatly — some children are mildly affected while others require extensive reconstruction.
Clinical Features
Malar hypoplasia — underdeveloped or absent cheekbones
Micrognathia — small, receding lower jaw that can cause airway obstruction
Downward-slanting palpebral fissures (eye openings) with colobomas (notches) of the lower eyelids
External ear deformities (microtia) — small, malformed, or absent ears
Conductive hearing loss due to middle ear and ear canal abnormalities
Cleft palate in approximately 35% of cases
Normal intelligence in most cases
Potential airway compromise in severe cases requiring early intervention
Treatment Options
Airway Management
In severe cases, the small jaw can obstruct the airway. Mandibular distraction osteogenesis may be performed in infancy to gradually lengthen the jaw and open the airway, potentially avoiding a tracheostomy.
Ear Reconstruction
Reconstruction of the external ear using rib cartilage framework (typically at age 6–10) or prosthetic ear options. Bone-anchored hearing aids (BAHA) may be used to address hearing loss.
Cheekbone & Orbital Reconstruction
Surgical reconstruction of the cheekbones and orbital rims using bone grafts, custom implants, or fat grafting to restore facial contour and symmetry.
Eyelid Surgery (Coloboma Repair)
Surgical repair of lower eyelid notches to improve eye protection and appearance.
Jaw Surgery (Orthognathic)
Mandibular and/or maxillary surgery in the late teens to correct jaw alignment and improve facial proportions after growth is complete.
Cleft Palate Repair (if present)
Standard cleft palate repair at 9–12 months if a cleft palate is part of the condition.
Hemifacial Microsomia
Hemifacial microsomia is the second most common craniofacial birth difference after cleft lip and palate. It involves underdevelopment of the structures on one side of the face, including the jaw, ear, and soft tissues. The severity is classified using the OMENS system (Orbit, Mandible, Ear, Nerve, Soft tissue). Treatment is individualized based on the degree of involvement.
Clinical Features
Asymmetric jaw — one side of the mandible is smaller or underdeveloped
Ear anomalies — ranging from small ear (microtia) to skin tags to absent ear
Facial nerve weakness on the affected side (in some cases)
Soft tissue deficiency — less muscle and fat on the affected side
Orbital asymmetry — one eye socket may be smaller or positioned differently
Macrostomia — widened mouth opening on the affected side (in some cases)
Hearing loss on the affected side
Usually unilateral, but can be bilateral (10–15% of cases)
Treatment Options
Mandibular Distraction Osteogenesis
A device is attached to the jaw bone, and the bone is gradually lengthened over several weeks. This can be performed in infancy for airway issues or later in childhood to improve jaw symmetry.
Costochondral Rib Graft
A section of rib cartilage is used to reconstruct the jaw joint (TMJ) and ramus in cases where the jaw is severely underdeveloped or the joint is absent.
Fat Grafting
Fat is harvested from another area of the body and injected into the deficient side of the face to improve soft tissue volume and symmetry. Multiple sessions may be needed.
Ear Reconstruction
For children with microtia, ear reconstruction using rib cartilage framework or prosthetic options. Hearing aids may also be recommended.
Orthodontics & Orthognathic Surgery
Comprehensive orthodontic treatment combined with jaw surgery in the late teens to achieve optimal bite alignment and facial symmetry.
Goldenhar Syndrome
Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a condition related to hemifacial microsomia but with additional features including eye abnormalities and vertebral anomalies. It affects the development of the ear, mouth, and spine, primarily on one side of the body. Treatment addresses both the facial and spinal components.
Clinical Features
All features of hemifacial microsomia (jaw, ear, soft tissue underdevelopment)
Epibulbar dermoids — benign growths on the surface of the eye
Upper eyelid colobomas (notches)
Vertebral anomalies — fused, missing, or abnormally shaped vertebrae
Pre-auricular skin tags or pits
Cardiac defects in some cases
Kidney abnormalities in some cases
Variable severity — some children are mildly affected, others significantly
Treatment Options
Facial Reconstruction
Similar to hemifacial microsomia treatment — mandibular distraction, fat grafting, ear reconstruction, and orthognathic surgery as needed.
Epibulbar Dermoid Removal
Surgical removal of eye surface growths by an ophthalmologist when they affect vision or cause discomfort.
Spinal Monitoring & Treatment
Regular monitoring of the spine for scoliosis or instability. Bracing or surgery may be needed for significant vertebral anomalies.
Cardiac & Renal Evaluation
Screening for heart and kidney abnormalities with appropriate specialist follow-up.
Hearing Rehabilitation
Hearing aids, bone-anchored hearing devices, or surgical intervention for hearing loss.
A Team Approach to Complex Care
Children with craniofacial syndromes benefit from a coordinated team of specialists who work together over many years. Dr. Chaiyasate leads the surgical planning and collaborates with pediatricians, neurosurgeons, ophthalmologists, ENT specialists, orthodontists, speech therapists, audiologists, geneticists, and psychologists to ensure comprehensive care.
Each child's treatment plan is individualized based on their specific condition, severity, and developmental needs. The goal is not just to improve appearance, but to optimize function — breathing, eating, hearing, speech, and vision — and to support the child's overall well-being and quality of life.
Schedule a Consultation
Dr. Chaiyasate and his team are here to answer your questions and discuss the best treatment options for you or your child.