Apert Syndrome

Christina O'Neill

What is Apert Syndrome?

Apert Syndrome was first described in 1906 by French physician, Eugene Apert as acrocephalosyndactylia. This is a rare autosomal dominant disorder characterized by premature fusion of certain skull bones. This premature fusion prevents the skull from normal growth and affects the shape of the head and face. Apert Syndrome is described as a developmental malformation characterized by craniosynostosis, craniofacial anomalies and severe symmetrical syndactyly (fusion together) of the hands and feet (Kheir, Hamed, Maki & Hasan, 2014). This is caused by a mutation in the fibrolast growth factor receptor 2 (FGFR2) gene on chromosome 10.


Because this is an autosomal dominant disorder, only one parent needs to have the abnormal gene for it to be inherited. However, in most cases of Apert Syndrome, the parents are unaffected and the child randomly experiences a mutation in this gene and are affected ("Apert Syndrome," n.d.). Someone with Apert Syndrome has a 50% greater chance of passing this on to their children and a risk factor for this disorder has been said to be increased paternal age (Aggarwal, Singh & Kumar, 2014). Males and females are equally affected with this syndrome.


Prevalence

Approximately 1 in 55,000 to 90,909 live births (Datta, Saha, Kar, Mondal & Basu, 2014).


Diagnosis

Diagnosis can be made using a skull x-ray, CT scan, examination of the shape of the skull, observations, and genetic testing. The doctor will observe facial features and fingers/toes to determine whether the person has the common characteristics of this syndrome. When determining if the diagnosis is Apert Syndrome compared to a different disorder, the combination of craniofacial problems and fused fingers/toes distinguishes this apart from other syndromes ("Apert Syndrome," n.d.).


Severity Classification

When classifying the severity of this disorder one must look at the extent of the fusion. Therefore, the severity varies based off of the fusion that the individual is experiencing. At a minimum severity, three fingers on each hand and foot are fused together. In the more severe cases, all fingers and toes are fused together.


Prognosis

The prognosis of Apert Syndrome depends on the severity of brain malformation and early surgical interventions (Kheir, Hamed, Maki & Hasan, 2014). An early diagnosis and implementation of treatment obviously leads to a better prognosis. The multidisciplinary treatment team as well as family support and involvement is critical in someone's prognosis also.


Apert Syndrome Awareness Video: https://www.youtube.com/watch?v=HsXvgPeTdAo

Characteristics/Signs and Symptoms

Facial Features
  • Sunken appearance in the middle of the face
  • Bulging and wide-set eyes
  • High prominent forehead
  • Flat posterior skull
  • A beaked nose
  • Cone-Shaped Calvarium
  • Hypertelorism
  • Midface Hypoplasia
  • Pseudo Cleft-Palate
  • Underdeveloped upper jaw leading to crowded teeth and other dental problems.

  • Shallow eye sockets can cause vision impairments


Other Signs/Symptoms
  • Fusion of fingers/toes
  • Hearing Loss
  • Patches of missing hair in the eyebrows
  • Fusion of spinal bones in the neck (cervical vertebrae)

  • Recurrent ear infections that may be associated


(Kheir, Hamed, Maki & Hasan, 2014; "Apert Syndrome," 2008; "Apert Syndrome," n.d.)


Living with Apert Syndrome: https://www.youtube.com/watch?v=_p-cuijz9QY

The Basics on my Disorder: https://www.youtube.com/watch?v=YOTjhcyRUnA

Language & Learning Implications

For children with Apert Syndrome, intellectual development can be disrupted due to its affects on brain development. The alterations to cranial shape as a result of skull fusion can limit cerebral growth and development (Yacubian-Fernandes et. al, 2005). Cognitive abilities range from normal to severe learning disability (Sarimski, 2001). It has also been found that about 50% of children with this disorder have slower learning rates and abilities, but as they get older they often catch up to their peers. It has been estimated that 4/10 children with Apert Syndrome will have normal cognitive ability (Elleseff, 2014). As you can see there is variability among the cognitive outcomes for these children. This is because it is very much dependent on early surgical intervention that can help allow for appropriate growth of brain structures.


Cleft palate and deafness are common with Apert, which both have an impact on language development. Speech and language outcomes are best when intervention begins as early as possible. Language deficits may vary depending on cognitive level, hearing status, and degree/timing of any surgical treatment done.


Speech and Language Development

A child with Apert Syndrome most likely will experience some difficulties in their speech development due to the facial abnormalities and hearing loss accompanying this disorder. The child may present with cleft lip/palate which would also greatly influence their speech. Examples of areas that may be affected include:

  • Articulation
  • Voice/Resonance
  • Language
  • Feeding/Swallowing
  • Oral Motor


Psychosocial Development

It is important to understand and address a child's psychosocial development in addition to their functional and physical needs. Because of their difficulties associated with functional abilities, stress caused by surgical corrections, and possible negative social experiences due to their facial malformations, these children are at risk for emotional and behavioral problems. Therefore, the goal of treatment should be to treat not only the functional and physical problems associated with this syndrome, but the psychosocial issues that may be present as well (Sarimski, 2001).