Key Points about Apert Syndrome

  • Facial features include widely spaced eyes, bulging of the eyes, an underdeveloped and ‘sunken-in’ appearance of the mid-face, and/or narrow roof of the mouth.
  • May also involve complex webbing (syndactyly) of the hands and feet.
  • About half of individuals have developmental delay and intellectual disability of varying degrees.

Overview

Apert syndrome is rare a genetic disorder which affects the child’s skull, face, hands and feet. This syndrome will affect the skull by fusion of both coronal sutures (craniosynostosis), causing an abnormal head shape and possibly an increase in the pressure on the brain. These skull changes lead to changes in the face, mainly underdevelopment of the upper and middle part of the face (midface hypoplasia).

Apert syndrome causes

  • The syndrome can be caused by a random mutation on a gene that produces a fibroblast growth factor receptor 2 (FGR2), located on chromosome 10.
  • Can be passed on from the child’s parents through autosomal dominant inheritance - only one parent needs to have the abnormal gene for the child to inherit the disease.

Apert syndrome risk factors

  • Increased paternal age may be a risk factor

Apert syndrome symptoms

Symptoms of apert syndrome may vary. Common signs of this can include:

  • Pointed head (acrocephaly) at birth
  • Back of skull may appear flattened, with a high and broad forehead
  • Pressure on the brain due to hydrocephalus
  • Widely spaced eyes
  • Bulging of the eyes
  • Underdeveloped and ‘sunken-in’ appearance of the mid-face and/or narrow roof of the mouth
  • Cleft palate
  • Asymmetrical face
  • Flattened nose with a low bridge
  • Delayed teeth growth, dental crowding or open bite
  • Moderate to severe acne
  • Trouble breathing or swallowing due to narrowed openings in the nose and throat
  • Short fingers and broad thumbs
  • Toes that deviate outward
  • Complex webbing (syndactyly) of the hands and feet
  • Stiffening of finger joints around age four
  • Developmental delay and varying intellectual disability

Apert syndrome diagnosis

Diagnosis of apert syndrome can occur at birth by looking at the infant’s head, face, and skull. Diagnosis can be confirmed by genetic testing.

Apert syndrome treatment

While there is no cure for apert syndrome, corrective surgery can aid in some of the issues caused by this syndrome.

  • Cranial vault remodeling surgery – separates the abnormally fused skull and allows the brain to develop, usually performed around 6 to 8 months of age.
  • Midface Advancement surgery – adjusts the cheek and jaw bones into more suitable positions, often performed around the ages of 4 and 12.
  • Hypertelorism – corrects wide-set eyes by bringing them closer together, usually performed around ages 5 to 8.