What is an Acrocephaly?

May 16 23:07 2019 Print This Article

It is defined as a condition in which there is a malformation of the skull, face, hands and feet. It is a congenital disorder. It is also referred as a branchial arch syndrome. It affects the first brachial arch which is also known as the pharyngeal arch. It is also known as the Apert syndrome. It is a type of acro cephalo syndactyly. The pharyngeal arch is a precursor of the maxilla and mandible. The disturbance in the development of brachial arches in the fetal development creat a long lasting effect.

What is the over view of the Acrocephaly?

There was a French physician Eugene Apert in the year 1906 who described around 10 people sharing the similar characters and attributes. The word acro means peak in the Greek. It refers o the peaked head and is common in the syndrome. The word cephalo means head in the Greek. The word syndactyly means a webbing of finger and toes. In the embryology the hands and feet have selected cells that die and are known as the selective cell death or apoptosis. It separates the digits. In the case of acro cephalo syndactyly there is no selective death and rarely the bone between the finger and toes fuses. It occurs in 1 per 160,000 to 1 per 200,000 live births. It also involves the cranial bones as seen in the Crouzon syndrome and Pfeiffer syndrome.

When the fetal skull and facial bone fuse together it may lead to the cranio synostosis. It occurs in the utero and disturbs the normal growth of bone. The fusion of different sutures leads to different patterns of the growth on skull. It includes the fusion of different sutures. There is a fusion of the metopic sutures which are referred as a trigono cephaly. There is a fusion of the coronal sutures which are referred as a brachy cephaly. There is a fusion of the sagittal sutures which are referred as a dolicho cephaly. There is a fusion of the coronal and lamboidal sutures unilaterally which are referred as a plagio cephaly. There is a fusion of the coronal and lamboidal sutures which are referred as a oxy cephaly.

What are the signs and symptoms of the Acrocephaly?

There are cranial malformations. The skull is flat and posterior. There is a cranial synostosis along with the brachio cephaly which is a common pattern of the growth. There is a pre mature closing of the coronal sutures. They increase the cranial pressure which may lead to the mental problems. As a result of the retarded growth in mid facial bones one can see a concave or a flat face. It leads to a conditir prognathism. One can also see the shallow bony orbits and broadly placed eyes. The low set ears are the unique feature of this syndrome.

The most common feature of this syndrome is the presence of syndactyly of hands and feet. There is a union of the fingers and toes which are equal in number and are present on both sides of the body. There is also seen a fusion of the nails present on the digits. It is also known as the synonychia. It involves the middle 3 fingers mainly. Thumb and big toe are big and malformed. This disorder increases with the age and the joint grows continuously without the mobility.

What are the causes of the Acrocephaly?

It is an autosomal dominant disorder. It involves both the sexes equally. Its exact cause is still unknown. All the cases are sporadic which indicates the fresh mutations or the environmental injury to genome. The off spring of the parent with this syndrome has a 50 percent chance of the inheritance of this disorder. In the year 1995, A.O.M Wilkie published a paper which shows the evidence that this disorder is due to the defect on the fibroblast growth factor receptor 2 gene on chromosome 10.

What is the dental significance of the Acrocephaly?

It includes the high arched palate, pseudo mandibular prognathism which appear as a mandibular prognathism, narrow palate and crowding of the teeth.

What is the treatment of Acrocephaly?

Surgery is the feasible treatment which prevents the closing of coronal sutures so that the brain damaged can be prevented. There must be a combination of the orthodontic and orthognathic surgery which can correct the facial deformities. It includes the flat or concave face. In case of lee fort III which is a surgical procedure detaches the rest of skull from the mid face so that it can be positioned properly. There is a need of aggressive surgery so that fingers and toes can be separated.

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