[Deadwaves]

Apert syndrome 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. Linguistically, “acro” is Greek for “peak,” referring to the “peaked” head that is common in the syndrome. “Cephalo”, also from Greek, is a combining form meaning “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 skin, and rarely bone, between the fingers and toes fuses.

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), and 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.

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 are also a typical characteristic of branchial arch syndromes.

The major attribute of the syndrome is syndactyly of the hands and feet. Commonly there is fusion of fingers or toes with an equal number on both sides of the body. Those with Aperts syndrome may also show Synonychia, the fusion of two or more nails of the digits. It is typical for the middle 3 fingers to be fused together. The thumb and big toe may be broad and malformed. Apert syndrome is progressive with age as the joints continue to grow, but remain immovable.

Plastic surgery is needed to prevent the closing of the coronal sutures from damaging brain development. In particular, the LeFort III, a plastic surgical procedure, detaches the midface from the rest of the skull in order to reposition it in the correct plane. Aggressive surgery is needed to separate as many fingers and toes as possible.

[rheedork]

... Well, at least she must be a good swimmer?

[elizajane]

won't be asking her to roll 1...............

[Sharon]

How weird

[Faline]

Crazy but cool

[**butterflylove**]

she would save on nail polish

[PoetsOfTheFall]

Weird

[collaredgirl65]

Strange.

[TwistedPrincess]

aw, they will never get to know the ultimate satisfaction of flipping off some asshole who is pissing you off.

In embryology, the hands and feet have selective cells that die, called selective cell death or apoptosis, causing separation of the digits.

todays trivial fact to remember: selective cell death can be a good thing.

thought i would add some images i found when googling the subject.

[mrm1109]

Originally Posted by elizajane ↗

won't be asking her to roll 1...............