Apert Syndrome

Also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones.

It is characterized by deformities of the skull, face, teeth, and limbs.

Apert syndrome occurs in one out of every 65,000 to 88,000 births.

It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible.

There has been one study that suggests it has something to do with the expression of three isoforms of FGFR2, the gene with the point mutations that causes the syndrome in 98% of the patients.
KGFR, keratinocyte growth factor receptor, is an isoform active in the metaphysis and interphalangeal joints.
FGFR1 is an isoform active in the diaphysis.
FGFR2-Bek is active in the metaphysis, as well as the diaphysis, but also in the interdigital mesenchyme.
The point mutation increases the ligand-dependent activation of FGFR2 and thus of its isoforms.
This means that FGFR2 loses its specificity, causing binding of FGFs that normally do not bind to the receptor.

Apert syndrome allows the skull bones to fuse together prematurely, a process called craniosynostosis. The brain continues to grow inside the abnormal skull, putting pressure on the bones in the skull and face
syndactyly — a condition in which their fingers are webbed or conjoined

There are three main types of syndactyly in Apert syndrome:

Type I (“spade hand”): the index, middle, and ring fingers are fused, and the thumb is free. These patients typically have a “flat” palm

Type II (“mitten hand”): the three middle fingers and the thumb are fused, and the palm curves inward or is concave.

Type III (“rosebud hand”): All fingers and the thumb are fused

Repeated ear or sinus infections
Hearing loss
Crowded teeth due to underdevelopment of the jaw
Abnormal fusion of the bones of the hands and feet (syndactyly) -- with webbed or mitten-like hands or feet
Heart, gastrointestinal, or urinary system problems
Heavy sweating (hyperhidrosis)
severe acne
missing patches of hair in the eyebrows
opening in the roof of the mouth (cleft palate)
noisy breathing

As the apert syndrome is a genetic syndrome babies by birth itself treatment planning can be done accordingly

The concerned departments are

Pediatrician

Surgeon

Orthopedist (a doctor who treats bone, muscle, and joint problems)

Ent (a doctor who treats problems with the ears, nose, and throat)

Cardiologist (a doctor who treats problems with the heart)

Hearing specialist

Midfacial advancement (also known as Le Fort III distraction) to bring forward the middle part of your child’s face, opening up the airway and protecting their eyes
Relieve pressure or drain fluid buildup (hydrocephalus) inside the skull
Open up the bones of the skull and give the baby’s brain room to grow
Move the jaw and face bones to improve appearance and help with breathing
Release webbed fingers and sometimes toes
Remove teeth if they are too crowded
Surgical tracheostomy, or placement of a breathing tube in the neck; this surgery may be done for children with severe obstructive sleep apnea due to Apert syndrome.
Surgical placement of ear tubes (myringotomy)