Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Apert syndrome (also known as Alpert’s syndrome or Alperts syndrome)[1] is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch; the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.
In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics.[2]. Linguistically, “acro” is Greek for “peak,” referring to the “peaked” heads that is common in the syndrome. “Cephalo” is a combining form to mean the head. Syndactyly refers to webbing of fingers and toes.
In embryology, the hands and feet have selective cells that die, called selective cell death or apoptosis, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell death does not occur and fusion of skin, and rarely bone, between the fingers and toes occurs.
The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffer syndrome. Craniosynostosis occurs when the fetal skull and facial bones fuse too soon in utero, disrupting normal bone growth. Fusion of different sutures leads to different patterns of growth on the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures unilaterally), oxycephaly (or turricephaly- fusion of coronal and lambdoid sutures).
Apert syndrome occurs in approximately 1 per 160,000 to 1 per 200,000 live births.[3]
Acrocephalosyndactyly may be an autosomal dominant disorder. Males and females are affected equally; however research is yet to determine an exact cause. Nonetheless, almost all cases are sporadic, signifying fresh mutations or environmental insult to the genome. The offspring of a parent with Apert syndrome has a 50% chance of inheriting the condition. In 1995, A.O.M Wilkie published a paper showing evidence that acrocephalosyndactyly is caused by a defect on the fibroblast growth factor receptor 2 gene, on chromosome 10.[4]
The cranial malformations are the most apparent effects of acrocephalosyndactyly. Cranialsynostosis occurs, with brachiocephaly being the common pattern of growth. Another common characteristic is a high, prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop, leading to mental deficiency. A flat or concave face may develop as a result of deficient growth in the mid-facial bones, leading to a conditir prognathism. Other features of acrocephalosyndactyly may include shallow bony orbits and broadly spaced eyes. Low-set ears is also a typical characteristic of branchial arch syndromes.
[tubepress mode=’tag’, tagValue=’Apert syndrome’]