Which are the symptoms of Pfeiffer Syndrome?

Symptoms of Pfeiffer Syndrome

Pfeiffer Syndrome is a rare genetic disorder that affects the development of the skull, hands, and feet. It is characterized by abnormal growth patterns in these areas, leading to distinct physical features and potential complications. The severity of symptoms can vary widely among individuals with Pfeiffer Syndrome, but there are several common signs to look out for.

1. Craniofacial Abnormalities

One of the hallmark features of Pfeiffer Syndrome is craniofacial abnormalities. These include:

• Abnormal head shape: Infants with Pfeiffer Syndrome often have a high, prominent forehead and a flat, underdeveloped midface.


• Wide-set, bulging eyes: The eyes may be widely spaced and protrude forward due to shallow eye sockets.


• Beaked nose: The nose may appear prominent and beak-like in shape.


• Underdeveloped jaw: The lower jaw may be small and set back, leading to dental and breathing difficulties.

2. Hand and Foot Abnormalities

Pfeiffer Syndrome also affects the development of the hands and feet. Common abnormalities include:

• Syndactyly: Fingers and/or toes may be fused together, giving them a webbed appearance.


• Broad thumbs and big toes: The thumbs and big toes may be wider and larger than usual.


• Shortened digits: Fingers and toes may be shorter than normal.

3. Hearing Loss

Hearing loss is a common complication of Pfeiffer Syndrome. It can range from mild to severe and may require intervention such as hearing aids or surgery.

4. Breathing Difficulties

Due to the underdeveloped midface and small jaw, individuals with Pfeiffer Syndrome may experience breathing difficulties. This can lead to sleep apnea, snoring, and other respiratory problems.

5. Dental Issues

The abnormal jaw and crowded teeth can cause dental problems, including misalignment, overcrowding, and a high risk of cavities. Regular dental care and orthodontic treatment may be necessary.

6. Developmental Delays

Some children with Pfeiffer Syndrome may experience delays in reaching developmental milestones, such as sitting, crawling, and walking. Early intervention and therapy can help address these delays.

7. Intellectual Disability

In rare cases, Pfeiffer Syndrome can be associated with intellectual disability. However, the majority of individuals with Pfeiffer Syndrome have normal intelligence.

It is important to note that the severity and combination of symptoms can vary significantly among individuals with Pfeiffer Syndrome. Therefore, each person's experience with the condition may be unique.