Pfeiffer Syndrome: The Rare Genetic Disorder That Killed Prince's Son

The condition affects less than 50,000 people, and it can cause skeletal deformities and respiratory problems.

With the introduction of DIY genetic testing such as 23andMe, CRI Genetics, AncestryDNA, and others, many people are researching their genetic makeup. They not only want to learn about their predisposition for diseases they might be at risk of developing but also about their carrier status if they have children. A carrier status means you have a variant for a genetic condition that can pass on to your children.

According to a memoir by Prince's ex-wife Mayte Garcia, and excerpted by VanityFair, the couple's infant son, Amiir,—who died in 1996 at just six days old—had Pfeiffer syndrome type 2. The loss of a child, such as in this story, can be heartbreaking to everyone involved.

What is Pfeiffer Syndrome

Pfeiffer syndrome is a rare genetic disorder that can cause skeletal deformities and respiratory problems. And type 2 is a more severe form of the disorder that affects the nervous system, leading to life-threatening symptoms—including limited mobility and trouble breathing. 

So, how does Pfeiffer syndrome develop, what are the risk factors, and how can the condition be treated? Here's what you should know about the rare genetic disorder.

The Cause of Pfeiffer Syndrome

In the United States, Pfeiffer syndrome is estimated to affect less than 50,000 people, according to the Genetic and Rare Disease Information Center (GARD).

Pfeiffer syndrome is caused by a mutation in one of two genes involved in prenatal bone development. As a result of that mutation, bone production speeds up, and bones in the skull fuse together prematurely.

"In babies, the cranial bones of the skull are supposed to be free from each other so they can continue to grow," said José F. Cordero, MD, department head of epidemiology and biostatistics at the University of Georgia in Athens. "When this happens earlier than it should, that leads to a very abnormal head shape and facial shape."

Signs and Symptoms

Babies with Pfeiffer syndrome can be born with bulging, wide-set eyes, a high forehead, sunken mid-face, and a beaked nose, according to GARD. The child's fingers and toes may also be webbed or unusually short and wide. More than half of all children with Pfeiffer syndrome have hearing loss. As per the National Library of Medicine, dental problems are common.

In the excerpt from Garcia's memoir, she describes her newborn son's face: "Because there were no lids to blink, his eyes looked startled and dry."

Syndrome Types

According to Dr. Cordero and Medline, there are three types of Pfeiffer syndrome. Type 1—also known as classic Pfeiffer syndrome—includes the symptoms mentioned earlier. Most individuals with type 1 have average intelligence and a normal life span.

However, types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems.

Individuals with type 2 or 3 can have a fusion of the bones in the elbow or other joints, causing limited mobility. According to the National Library of Medicine, those individuals may also have facial and breathing abnormalities.

In infants with Pfeiffer syndrome type 2, like Prince's son, the fusion of several bones in the skull causes the skull to have a "tri-lobed" appearance, called a cloverleaf skull deformity, or Kleeblattschadel type craniosynostosis, according to National Organization for Rare Disorders (NORD).

How Dangerous is Pfeiffer Syndrome?

Most babies do not die from Pfeiffer syndrome. However, babies with type 2 often experience life-threatening conditions. 

Those include impaired mental development and neurological or hypoxia due to breathing problems. And without appropriate treatment, those physical abnormalities may lead to complications during infancy, per NORD.

As with type 2, individuals with type 3 often experience impaired mental development and severe neurological problems and may develop potentially life-threatening complications early in life without appropriate treatment.

"When the head is tremendously misshapen, it can affect not only the skull but also the respiratory system and the trachea," said Dr. Cordero. After Prince's son, named Amiir, was born, he struggled to breathe, and healthcare providers recommended a tracheotomy.

Risk Factors for Pfeiffer Syndrome

Pfeiffer syndrome is what's known as an autosomal dominant disorder, which means that either parent can pass the mutation onto their offspring. 

"But what is intriguing is that the mother or father may have very little symptoms and still carry the gene, while the baby is more severely affected," explained Dr. Cordero. If one parent has Pfeiffer syndrome, there is a 50% chance that each child will be born with the disorder. It can also result from a new mutation in which neither parent is a carrier. 

According to the National Organization for Rare Disorders, new mutations are responsible for nearly all instances of Pfeiffer syndrome type 2 and type 3. Babies with older fathers seem at increased risk of those random genetic mutations.

In her memoir, Garcia wrote that her healthcare provider recommended an amniocentesis when she started bleeding during her pregnancy. That procedure could determine the fetus's health but carries a slight danger of miscarriage. However, Prince refused to take the risk, Garcia wrote.

So while healthcare providers suspected the fetus carried genetic abnormalities, they didn't know for sure until after childbirth. 

Dr. Cordero said that is the case with most Pfeiffer syndrome babies: The condition is difficult to diagnose via ultrasound, so most remain undiagnosed until birth.

Treatments

Erica Mossholder, executive director of the nonprofit Children's Craniofacial Association (CCA), explained that treatment and surgical options for Pfeiffer syndrome have advanced dramatically since Amiir was born. 

"What was certainly a tragedy in Prince's case is not always the end result," Mossholder told Health via email. "So many of our children go on to live full, exciting lives."

According to NORD, treatment is directed by each child's specific symptoms. Treatment is multidisciplinary. It may require the coordinated efforts of a healthcare team comprised of pediatricians, surgeons, ears, nose, and throat physicians, neurologists, audiologists, and other healthcare providers. Those professionals would systematically and comprehensively plan a child's treatment.

The CCA provides financial assistance to help families obtain life-saving and life-altering surgeries needed for children with Pfeiffer syndrome and related conditions. 

"The journey is always scary at first," said Mossholder. "But with a medical team and a support network in place, life can be lived to the fullest and there is certainly hope and joy for these children and their families."

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Sources
Health.com uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. 23andMe. Information about carrier status tests.

  2. MedlinePlus. Pfeiffer syndrome.

  3. Genetic and Rare Disease Information Center. Pfeiffer syndrome.

  4. National Organization for Rare Disorders. Pfeiffer syndrome.

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