Also known as acral syndrome, it is a syndrome caused by premature closure of multiple cranial sutures. It was first reported by French neurologist Apert in 1906. The disease is an autosomal dominant disorder. It is usually sporadic, and both parents tend to be older, especially the father.
The symptoms are similar to those of Crouzon’s syndrome, which is characterized by premature closure of the cranial suture, protruding eyes and severe midface dysplasia. In Apert syndrome, the cranial deformities are mostly acral and short-headed. In infancy, the forehead is markedly flattened and posteriorly inclined, the anterior halo is bulging, and the occipital region is flattened without normal protrusion. The midface is seen to have a very high forehead, mild protrusion with moderate widening of the orbital spacing and a downward sloping lateral aspect of the horizontal axis of the orbit, and a small, flat nose. The upper jaw is poorly developed, the midface is sunken, the hard palate is high arched, there may be cleft palate, crowded teeth and open teeth, anterior dentition, a special appearance. Adult patients have typical acne on the face.
2. Syndactyly: The syndactyly of the hand and/or foot is mostly symmetrical with varying degrees. Skin fusion or complete bony fusion; partial fusion or complete fusion. The deformity often occurs when the second, third, and fourth phalanges are fused on behalf of one finger (toe) nail and the fingers are short. In addition, the metacarpal bone is short and can be fused with the radius, and joint movement is limited.
3, neurological aspects: most patients have delayed intellectual development, but some authors report that the patient’s intelligence is at an intermediate level, with an IQ close to normal.
Treatment: For craniofacial deformities, frontal orbital advancement is feasible in pediatric patients, as well as combined craniofacial advancement with an expanded Le Fort III osteotomy and simultaneous midfacial splitting and debridement to correct orbital spur widening. Different surgical options are available for adults, including Le Fort type III osteotomy or Monobloc surgery.
The timing of craniofacial surgery is generally favored early, usually as early as 6 months of age, and children with Apert syndrome have a defect in the midline of the skull that extends from between the eyebrows to bregma, which disappears completely by 2-4 years of age. Although the coronal suture closes postnatally, the butterfly fontanelle is larger and the herringbone and temporal bone scale sutures have some potential for growth, so the skull is more open postnatally in infants with Apert syndrome and increased intracranial pressure is less likely to occur. The early release, anterior displacement and remodeling of the frontal suture is not to treat the increased intracranial pressure, but to correct the distal cranial and skull base deformities.
For syndactyly (toe) deformity, one-stage or staged split-finger surgery, such as Z-shaped tissue flap reshaping and skin grafting, can be performed according to the plastic surgery principles of split-finger, and should be performed between 6 months and 3 years of age.