What is Apert Syndrome?
Apert Syndrome is a rather rare autosomal dominant disorder described by the French physician named Eugene Apert in 1906. This syndrome is otherwise known as acrocephalosyndactylia.
The following are the main characteristic features of patient with Apert syndrome:
- Craniofacial anomalies
- Severe symmetrical syndactyly of the hands and feet
Studies show that the prevalence rate of this syndrome is estimated at 1:65,000 live births. In addition, Asians are have the highest prevalence rate followed by the Hispanics.
Increased intracranial pressure (ICP)
This is characterized by headache and vomiting
Upper airway problems
Stridor and sleep apnea are the common pulmonary symptoms felt by the patient
- This can result to visual problems secondary to corneal injury.
- Once there is damage to the cornea, it will lead to infection such as conjunctivitis and keratitis
Skull and Face
- Craniostenosis affecting most commonly the coronal sutures which may lead to the development of acrocephaly, brachycephaly, flat occiput, and high forehead.
- Large and delayed closing of fontanelles.
- Gaping midline defect
- Cloverleaf skull anomaly is present although this happens only in 4 percent of infants.
- Facial features that are common include horizontal grooves above the supraorbital ridges, break in the continuity of the eyebrows, the mouth’s resting shape is trapezoid.
- Flat, symmetric face
- Maxillary hypoplasia
Eyes, Ears, Nose and Mouth
- Low-set ears and may experience conductive hearing loss.
- The eyes’ palpebral fissure is directed downward, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, luxation of the eye globes, glaucoma, etc.
- Depressed nasal bridge of the nose
- The mouth has a prominent mandible, down-turned corners, arched palate, cleft palate, etc.
- Crowded upper teeth, delayed dentition
Extremities and Digits
- The upper limbs are more commonly affected by the upper limb
- Repetitive radial deviation or a hitchhiker’s position can lead to the development of an abnormal phalanx
- The nails are contiguous (synonchia)
- Some people possess subacromial dimples
- In severe cases, the mobility of the shoulder joint is further limited to its major patterns of movement such as abduction, forward flexion, external rotation, etc.
- Decreased elbow movement is also apparent most commonly elbow extension, flexion, pronation, and supination.
- Short humerus or bones in the arm
- Genu valgum or knocked knees
Central Nervous System
- Level of intelligence range from normal to mild mental retardation
- Includes CNS malformations such as megalencephaly, agenesis of the corpus callosum, malformed limbic structures, problems in the development of the cerebral white matter, abnormalities in the pyramidal tracts, etc.
- Papilledema and optic atrophy with loss of vision occurs secondary to increased intracranial pressure.
- Cervical spinal fusion which are present at birth
- Ankylosis of the shoulder, elbow, and the hip joint
- Abnormalities in the tracheal cartilage
- Brittle nails
- Acneiform skin eruptions
- Discontinuity of the eyebrows
- Hyperkeratosis – thickening of the skin
- Paronychial infection – superficial infection of the nail plate’s lateral epithelium
- Excessive wrinkling of the forehead skin
- Dimpling of the skin on the knuckles, shoulders, and elbow
- Atrial septal defect – this is a congenital defect that allows blood to freely flow between the left and right atria
- Patent ductus arteriosus – there is no closure between the descending thoracic aorta and the pulmonary artery
- Ventricular septal defect – there is a defect in the ventricular septum, which divides the left and right ventricles of the heart
- Pulmonary stenosis – narrowing of the pulmonic valve causing difficulty in the blood flow from the right ventricle to the lungs
- Overriding aorta – in this situation, the aorta is situated directly over a ventricular septal defect
- Coarctation of the aorta – the aorta narrows on the area of insertion of the ductus arteriosus
- Dextrocardia – the heart is situated on the right side of the body instead of its normal orientation which is slightly pointing to the left
- Tetralogy of Fallot – this is a combination of four congenital anomalies affecting the heart and is common in blue baby syndrome
- Polycystic pelvis
- Renal pelvis duplication
- Bladder neck necrosis
- Absence of a vagina
- Prominent labia majora
- Enlargement of the clitoris
- Absence of one or both of the testes
The cause of Apert Syndrome is caused by mutations of the gene called fibroblast growth factor 2 or FGFR2. Mutations of this gene lead to the early closure of some bony structures of the skull.
The medical management used to treat this syndrome is as follows:
- Protect the cornea such as applying lubricating ointments in the eyes at bedtime to prevent dissecation. Artificial teardrops can also be used during the day.
- Manage respiratory problems such as nasal secretions, upper airway infection, careful use of nasal decongestants
- Polysomography – this is currently the most reliable method of monitoring the presence of sleep apnea
- Antimicrobial therapy – this is used to treat chronic middle ear effusion that resulted to bilateral conductive hearing loss
- Psychological and Social Challenges – this should managed by proper emotional adjustments.
- Surgery has a great impact on how these patients would at least be able to face the deficits in their physical features.
The fact about Apert syndrome is that it is a result of a genetic mutation; therefore it can be passed down from one generation to another. If your family has a history of this disorder and you are planning to get pregnant, it is recommended to seek genetic counseling to take preventive measures and preparations.
Based on studies, the life expectancy of these patients follows a normal course; however, the complications of this disorder might pose life-threatening effects on one’s health.
Apert Syndrome Pictures
Apert Syndrome Pics