Dental significance:

Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism (appearing as mandibular prognathism), a narrow palate and crowding of the teeth.³

INCIDENCE:

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. Apert syndrome can occur between 1 out of every 60,000-80,000 births. Males and females seem to have Apert syndrome in relatively equal numbers. Over 300 cases have been reported since the disorder was originally described in 1894 and 1906. Asian individuals have been reported to have the highest incidence of Apert syndrome.⁴

SYMPTOMS:

· Physical characteristics:

· Tall skull and high prominent forehead

· Underdeveloped upper jaw

· Prominent eyes that appear to be bulging out and may be spaced widely apart

· Small nose

· Fused fingers

· Fused toes

· Slower mental development due to the abnormal growth of the skull

· Cleft palate

· Vision problems caused by an imbalance of the eye muscles

· Recurrent ear infections, which can cause hearing loss

· Difficulty breathing due to a small nose and airway passages

· Increased perspiration (especially when asleep) due to hyperactive sweat glands

· Acne problems, especially during puberty ⁵

Systemic characteristics:

· Skeletal

3. Decrease in the rate of growth leading to short stature, despite normal birth weight and birth length

4. Fusion of vertebrae of neck

5. Fusion of the two arm bones

6. Fusion of the wrist bones

· Neurologic

3. Varying degrees of developmental delay

4. Mild to moderate intellectual disability: IQ seems to depend on factors including the age of skull decompression surgery and the presence of additional brain anomalies

5. Absence of corpus callosum, the fibrous tissue that joins the cerebral hemispheres of the brain

6. Failure to form the membranes that typically separate cavities of the brain

7. Enlarged brain cavity

8. Malformations of the parts of the brain that deal with the autonomous nervous system (ANS). ANS controls automatic body functions like breathing or heart rate

· Ears

3. Hearing loss

4. Chronic ear infections.

· Heart (cardiac)

3. Hole(s) in the ventricular wall

4. Overriding aorta develops when aorta is positioned directly over a hole in ventricular wall, instead of over the left ventricle. As a result, the aorta can contain some blood from the right ventricle. This reduces the amount of oxygen transported.

· Abdomen

3. Narrower opening between the lower part of the stomach and the upper part of the small intestine

4. Blockage of esophagus

· Kidneys and Genitourinary

3. Anus out of position

4. Blockage of the vagina

5. Failure of testicles to fall

6. Enlarged kidneys due to blockage ⁶

CAUSES:

Apert syndrome is caused by a change (mutation) in the fibroblast growth factor receptor-2 (FGFR2) gene. This

gene plays a critical role in skeletal development. Genes provide instructions for creating proteins that play distinct roles in our body. When a mutation of a gene occurs, the protein product may not work as it should. In Apert syndrome, mutations in FGFR2 result in these receptors not properly communicating with fibroblast growth factors. This affects the formation of normal sutures in the brain and can obstruct the development of many other structures in the body. This improper formation is what causes the malformations seen in Apert syndrome.⁷

DIAGNOSIS:

1. Skull X-ray

2. Head CT examination

3. Molecular genetic testing

TREATMENT:

1. Medical Care

Medical management of Apert syndrome includes the following:

· Protection of the cornea

o Instill lubricating bland ointments in the eyes at bedtime to protect corneas from desiccation

o Artificial teardrops during the day

· Upper airway obstruction during the neonatal period

o Remove excessive nasal secretions

o Treat upper airway infection

o Humidification with added oxygen

o Judicious use of topic nasal decongestants

· Sleep apnea

o Polysomography (a sleep recording of multiple physiologic variables), currently the most reliable method for determining the presence of sleep apnea

o Continuous positive pressure

· Chronic middle ear effusion associated with bilateral conductive hearing deficit - Antimicrobial therapy

· Psychological and social challenges confronted by individuals with Apert syndrome

o Emotional adjustment

o Body image development

o Impact of surgery and hospitalization on children with Apert syndrome ⁸

2. Surgical Care

Surgical management of Apert syndrome includes the following:

· Protection of the cornea: Lateral or medial tarsorrhaphy is performed in severe cases to narrow the palpebral fissure cosmetically and to protect the corneas and the vision.

· Upper airway obstruction during the neonatal period: This rarely requires orotracheal intubation.

· Sleep apnea: Tracheostomy is indicated in severely affected children.

· Chronic middle ear effusion associated with bilateral conductive hearing deficit: Bilateral myringotomy

and placement of ventilation tubes are the most effective treatment.

· Cranial surgery

1. Removes synostotic sutures

2. Reshapes the calvaria

3. Allows more normal cranial development to proceed with respect to shape, volume, and bone quality

4. Relieves increased intracranial pressure

· Orbital surgery

1. Correction of ocular proptosis

2. Reduction of increased interorbital distance (hypertelorism)

3. Correction of increased interior malrotation

· Nasal surgery

1. Infants and children: Nasal reconstruction focuses on correction of the excessively obtuse nasofrontal angle, flat nasal dorsum, and ptotic nasal tip.

2. Teenagers and adults: Reduction of the nasal tip bulk is indicated.

· Midfacial surgery

1. Normalization of midface appearance

2. Expansion of the inferior orbit

3. Volumetric expansion of the nasal and nasopharyngeal airways

4. Establishment of a normal dentoskeletal relationship

· Mandibular surgery: Mandibular osteotomies are performed to improve dentoskeletal relations for masticatory and aesthetic benefit.⁹

Other surgical approaches:

· Coronal suture and fronto-orbital advancement

· Facial cosmetic reconstruction

· Gradual bone distraction (Ilizarov procedure)

· Surgical separation of digits (mitten-glove syndactyly)

· Shunting procedure reduces intracranial pressure.

· 2-jaw surgery (bilateral sagittal split osteotomy with mandibular setback and distraction in the maxilla)

· Reconstructive procedures ¹⁰

CONSULTATIONS:

· Neurosurgeon

· Plastic surgeon

· Oromaxillofacial surgeon

· Craniofacial anesthesiologist

· Radiologist

· Otorhinolaryngologist

· Orthodontist

· Dentist

· Orthopedist

· Ophthalmologist

· Clinical geneticist

· Developmental pediatrician

· Neurologist

· Psychiatrist

· Psychologist

· Audiologist

· Speech pathologist

· Physical and occupational therapy specialist

COMPLICATIONS:

· Potential eye or brain injury

· Wound infections

· Leakage of cerebrospinal fluid or meningocele formation

· Increased intracranial pressure and hydrocephalus

· Airway obstruction, respiratory insufficiency, and sleep apnea

· Developmental delays

· Obstructive sleep apnea

· Supraglottic airway obstruction ¹¹

PROGNOSIS:

· Prognosis largely depends on the age at operation. Craniosynostosis can result in brain compression and mental retardation unless relieved by early craniectomy. Innovations in craniofacial surgery have enabled children with Apert syndrome to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance; however, early surgical treatment of craniosynostosis may not alter intellectual outcome.

· Prognosis depends on associated brain malformations. Malformations of the corpus callosum and size of the ventricles appear to play no role in the final intelligence quotient (IQ) score, though malformations of septum pellucidum have a significant effect.

· Quality of the family environment is another factor involved in intellectual achievement. Only 12.5% of children with Apert syndrome who are institutionalized reach a normal IQ score, compared with 39.3% of children from a healthy family background.¹²

REFERENCES:

1. Conrady CD, Patel BC, Sharma S. Apert Syndrome. In: StatPearls. StatPearls Publishing, Treasure Island (FL); 2019.

2. ^ "Apert syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 March 2018.

3. ^ "Apert syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 May 2019.

4. ^ synd/194 at Who Named It?

5. http://www.childrenshospital.org/conditions-and- treatments/conditions/a/apert-syndrome

6. Apert syndrome. Genetics Home Reference. Reviewed: February 2008. https://ghr.nlm.nih.gov/condition/apert-syndrome Accessed April 10, 2019.

7. https://rarediseases.org/rare-diseases/apert-syndrome/

8. https://emedicine.medscape.com/article/941723-treatment

9. https://emedicine.medscape.com/article/941723-treatment#d6

10. https://emedicine.medscape.com/article/941723-treatment#d7

11. https://emedicine.medscape.com/article/941723-followup#e4

12. https://emedicine.medscape.com/article/941723-followup#e5

Received on 18.07.2021 Modified on 04.08.2021

Int. J. Nur. Edu. and Research. 2021; 9(4):501-504.

DOI: 10.52711/2454-2660.2021.00118

	Type I ("spade")	Type II ("mitten")	Type III ("rosebud")
First webspace	Simple syndactyly	Simple syndactyly	Complex syndactyly
Middle three fingers	Side-to-side fusion with flat palm	Fusion of fingertops forming a concave palm	Tight fusion of all digits with one conjoined nail
Fourth webspace	Simple and incomplete syndactyly	Simple and complete syndactyly	Simple and complete syndactyly

Jyotika S. Kumar

ABSTRACT:

INTRODUCTION:

TYPES OF HAND DEFORMATION: