First described as a syndrome by Apert in 1906 this anomaly primarily affects the head, hands, and feet and is characterized by synostosis of the cranial sutures and varying degrees of complex syndactyly of the hands and feet.
The condition is very rare, probably occurring in one in 200,000 births.
Its etiology is not known. It is, a genetic disturbance with a strong dominant inheritance; sporadic cases due to mutation do occur.
Clinical Features
The head is peaked and vertically elongated in its anteroposterior diameter, with the planes of the face and the back of the skull being parallel.
The enlarging brain causes increased intracranial pressure.
Eyes are protuberant eyes and wide-spaced. There is a divergence of the transverse axis of eyes. Strabismus and progressive impairment of vision are common.
Often the posterior palate is high-arched, and there are fusion defects of the maxilla and mandible.
Convolutional atrophy of the brain and mental retardation are common.
In true Apert’s syndrome the hand looks like a mitten, with complete complex syndactyly of the index, long, and ring fingers. The three central digits are fused with interdigital osseous union and a common nail.
The little finger often shows a soft-tissue syndactyly with the ring finger.
The thumb is short and deviated radially at the metacarpophalangeal joint; it is often separate, but sometimes may be webbed with the fingers.
The palm is spoon-shaped and functions like a paddle for gross movements.
The deformity is bilateral. The feet show complete syndactyly of all toes and coalition of carpal and tarsal bones.
Often both bones of the forearm are shortened, the elbows are stiff, and shoulder abduction is limited.
Treatment
Treatment is a multidisciplinary neurosurgical and plastic surgical reconstruction. An osteotomy of the cranial bones is performed to prevent an increase in intracranial pressure, and the facial bones are reconstructed.
With surgical techniques which are available today, the rate of success is good.
At 6 to 12 months of age the hands are treated for syndactyly. Liberation of adhering fingertips permits normal longitudinal growth of the fingers and prevents progressive deformation of the interphalangeal joints.
The skin coverage of the separated fingers is provided by local flaps and skin grafting; full-thickness skin grafts are better than split-thickness skin grafts.
Range of motion exercises are performed to increase the arcs of flexion of the proximal interphalangeal and distal interphalangeal joints. Long-term follow-up studies show marked improvement in function.
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