What Is Apert Syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a sporadic autosomal dominant inherited disease. It is characterized by a pointed, short head, dysplasia of the middle part of the face, and a finger (toe). Syndromes. Craniofacial symptoms are similar to Crouzon's syndrome, manifested by cranial deformities caused by premature closure of cranial sutures, severe dysplasia of exophthalmos, and the middle of the face. In Apert syndrome, most of the cranial deformities are pointed and short heads. In the infancy, the forehead is flattened and tilted back, and the anterior bulging is convex. It may be accompanied by moderate orbital widening. The outside slopes downward. High arched canopy, may have cleft palate, crowded and open, anti-deformed dentition.

Apert syndrome

Apert syndrome, also known as acrocephalosyndactyly, is a sporadic autosomal dominant inherited disease. It is characterized by a pointed, short head, dysplasia of the middle part of the face, and a finger (toe). Syndromes. Craniofacial symptoms are similar to Crouzon's syndrome, manifested by cranial deformities caused by premature closure of cranial sutures, severe dysplasia of exophthalmos, and the middle of the face. In Apert syndrome, most of the cranial deformities are pointed and short heads. In the infancy, the forehead is flattened and tilted back, and the anterior bulging is convex. It may be accompanied by moderate orbital widening. The outside slopes downward. High arched canopy, may have cleft palate, crowded and open, anti-deformed dentition.

Western Medicine Name

Apert syndrome

English name

acrocephalosyndactyly

Other name

Point and Finger Syndrome

The main symptoms

Craniofacial malformation

Main cause

Dominant inheritance

Multiple groups

Children of older parents

Contagious

Non-contagious

Diet health

Mostly light food, pay attention to diet

1. The craniofacial bone deformity is obviously short head with a pointed head, the forehead is steep; the middle 1/3 of the face is underdeveloped, the mandible is relatively slightly protruded, and the nose is flat.

2. Hand and foot deformities are bilaterally symmetrical, and the finger deformities involve at least the second, third, and fourth fingers. If the second, third, fourth, and fifth fingers are referred to as obstetric hands, all fingers are referred to as spoon-shaped hands. The parallel toe usually involves the second, third, and fourth toes, and the X-ray shows bone fusion.

3. Ocular symptom is too wide, exophthalmos, exotropia, hypoplasia of the lateral condyle, optic nerve compressing at the optic nerve hole, optic disc edema, often secondary optic nerve atrophy.

4. Malformation of the maxillo-mandibular system The malformation of the maxilla is caused by malformations, with 25% to 30% of cases suffering from soft palate cleft or uvula cleft.

5. The central nervous system has abnormal mental retardation, premature closure of cranial suture, and severe cases have corresponding symptoms of increased intracranial pressure.

6. Other malformed lower ears, spina bifida, joint adhesions, abnormal cardiovascular system, etc.

For pediatric patients, frontal orbital advancement is feasible, and according to Tessier, Wolfe, etc., the craniofacial joint advancement can be performed to expand Le Fort type osteotomy. At the same time, mid-face splitting and bone removal can be performed to correct orbital widening. Adult surgical options are the same as Crouzon syndrome.

1, mostly light food, pay attention to diet rules.

2. Eat a reasonable diet based on your doctor's recommendations.

Children of older parents, especially with increasing parity, are more likely to suffer; regular prenatal checkups should be performed.

Autosomal dominant, but most cases are sporadic. It may also be caused by a genetic mutation.

Pay attention to the following diseases:

1. Carpenter Syndrome And refers to (toe) is the soft tissue adhesion between the fingers (toe) to form webs, non-bone fusion, often involving the third and fourth fingers (toe), and may be accompanied by multi-finger (toe) deformity. The disease is autosomal recessive.

2. Saethre-Chotzen syndrome (acrocephalosyndactyly III, ACS) has a short pointed tip, but it is often caused by unilateral bone sutures, and it is oblique. The parallel finger (toe) is also a soft tissue web, and it usually occurs between the 2nd, 3rd or 2nd, 3rd, and 4th fingers, and the parallel toe often occurs between the 2nd, 3rd, or 4th and 5th toes. The disease is autosomal dominant and has a high penetrance.

Laboratory inspection:

Other auxiliary checks:

X-ray of head (post-anterior), CT scan of skull.

Can be complicated by central nervous system abnormalities: mental retardation, premature closure of cranial sutures, and severe cases with corresponding symptoms of increased intracranial pressure. Other malformations include low ears, spina bifida, joint adhesions, and abnormalities in the cardiovascular system.

Higher neonatal mortality.

In the past, this disease was thought to be caused by external factors such as osteitis, rickets, amniotic fluid cord compression, congenital syphilis, and rubella, and was considered to be an autosomal dominant hereditary disease. Generally sporadic. Parents tend to be older, especially fathers.