PFEIFFER SYNDROME TYPE I

Pfeiffer syndrome type I is a genetic disorder marked by the premature fusing of some skull bones and other birth abnormalities in the hands and feet. In addition, the defects in the skull bones result in alterations in the form of the head and the appearance of the face. The syndrome is divided into three categories, with Types II and III as the most serious.

SYMPTOMS

Pfeiffer syndrome type I has the following signs and symptoms:

  • Wide-set eyes
  • Dental problems
  • Protrusion of the eyes
  • Prominent lower jaw
  • Beaked nose
  • Short toes and fingers
  • Bulging eyes
  • High forehead
  • Underdevelopment of the upper jaw
  • Hearing loss
  • Fusion or webbing between the digits
  • Cloverleaf-shaped head

The level of intelligence by people with the Pfeiffer syndrome type I is usually normal. Unfortunately, Pfeiffer syndrome types II and III are characterized by difficulties in brain development. This can restrict brain development and cause developmental delays.

DIAGNOSIS

Your doctor can occasionally diagnose Pfeiffer syndrome type I while your baby is still in the womb. Your doctor will typically establish a diagnosis when your baby is born if there are apparent symptoms. But if your baby’s symptoms are modest, your doctor might not detect the problem for months, if not years, after he or she is born and begins to grow. 

Furthermore, your doctor may recommend genetic testing for you, your child, and partner to screen for mutations in FGFR genes, which cause Pfeiffer syndrome type I, as well as to determine who has acquired the gene.

TREATMENT

Although there is no cure for Pfeiffer syndrome type I, there are therapies available to address the symptoms of each individual. Your doctor will generally prescribe surgery in phases to modify your child’s skull and relieve pressure on their brain around three months after they are born.

The synostotic sutures, or gaps between the various bones in your child’s skull, are first divided. The skull is then repaired to allow room for the brain to develop and the skull to take on a more regular shape. To ensure your child’s condition, doctors will give a detailed therapy plan. 

After your kid has recovered from these operations, your doctor may recommend long-term treatment to relieve symptoms of the face, hands, jaw, or feet so that they can move and breathe.

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