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Pfeiffer Syndrome | 5 Important Points

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Pfeiffer Syndrome | 5 Important Points

Pfeiffer Syndrome

Pfeiffer syndrome is a rare genetic disorder affecting only girls. It causes the underdevelopment of brain parts and a failure to thrive. When it occurs in utero, the child cannot move or eat normally. A baby born with Pfeiffer syndrome may not live past the first year of life.

1. A Brief History of Pfeiffer Syndrome

Pfeiffer combines German words:’ to pluck’ and ‘to pick. So, Pfeiffer syndrome is a condition where a person suffers from a shortening of the fingers or toes. Dr. Pfeiffer, an Austrian physician, first discovered the syndrome.
Pfeiffer syndrome was initially named ‘Pfeiffers syndrome,’ but after discovering another similar syndrome called Schimmelpenning syndrome, it was changed to Pfeiffer syndrome.

To understand the symptoms of this disease, it is essential to know the typical characteristics of the people suffering from it. The characteristic features of this disease are:

Shortened fingers and toes
In some circumstances, the needles and feet may be quicker than usual.
Shortened bones in the fingers and toes
The affected individuals may suffer from a shortening of the bones in their fingers and toes.

Muscular atrophy
People who have this disease may suffer from muscular atrophy.

Deformed nails
The nails of the affected individuals may appear deformed.
The most common symptoms of Pfeiffer syndrome are:

Shorter stature
It is the most common symptom of this syndrome. People suffering from this disease are usually shorter than their peers.

Shortened fingers
The fingers of the affected individuals may be shorter than those of unaffected individuals.

The affected individuals may experience knee joint pain.

Other complications
Complications such as cardiac failure, mental retardation, kidney failure, and blood disorders may also occur in Pfeiffer syndrome.

According to the medical literature, the people diagnosed with Pfeiffer syndrome are children. There are more male patients than female patients.

Pfeiffer syndrome has no known causes. There is no specific reason why people are suffering from this disease. However, it has been observed that this disease is more prevalent in families of northern European origin.

The treatment of Pfeiffer syndrome is dependent on the extent of the disease. Individuals mourning from this disorder are recommended to follow a healthy lifestyle. The affected individuals are required to take regular exercise and a healthy diet. Moreover, they are advised to take adequate amounts of vitamin D and calcium.

If you suffer from any symptoms of Pfeiffer syndrome, you must visit a doctor for further treatment. There are no specific treatments for Pfeiffer syndrome; however, some people have found that taking vitamin supplements helps them to get better.

2. Common Characteristics of Pfeiffer Syndrome

Pfeiffer syndrome is a periodic congenital condition marked by the presence of different fingers and toes and various congenital disabilities. The state is named after Dr. Charles A.Pfeiffer, who first described it in 1921.

The symptoms of Pfeiffer syndrome vary depending on the person affected by the disease. Some patients may only show minor signs, while others may experience serious complications. Although there is no known cure for Pfeiffer syndrome, it can be treated effectively through a multidisciplinary approach.

Here are some common characteristics of Pfeiffer syndrome:

1. Extra fingers and toes
People with Pfeiffer syndrome usually have two extra fingers or toes. These different fingers or toes can appear anywhere on the body and even extend beyond the end of the arms or legs.

2. Musculoskeletal deformities
Patients with Pfeiffer syndrome are often born with musculoskeletal deformities, including scoliosis, clubfoot, and hip dislocation.

3. Cardiovascular disorders
Patients with Pfeiffer syndrome often develop cardiovascular diseases, such as heart defects and heart murmurs.

4. Speech and hearing defects
Some people with Pfeiffer syndrome may also experience speech and hearing problems.

5. Congenital facial deformities
People with Pfeiffer syndrome may also have facial deformities, including cleft palate, micrognathia, and low-set ears.

6. Other defects
Some people with Pfeiffer syndrome may also experience additional congenital disabilities, including diaphragmatic hernia, spinal cord abnormalities, and retinal defects.

It is essential to learn about Pfeiffer syndrome because if you are diagnosed with it, you should get a doctor’s assessment for proper treatment. If you have any doubts regarding this disorder, you can contact a doctor or a genetics doctor for appropriate treatment and follow-ups.

3. Causes of Pfeiffer Syndrome

Pfeiffer syndrome is a rare hereditary disorder characterized by short stature, distinctive facial features, and sometimes congenital heart defects. It is driven by a transformation in the gene SH3BP1 and is inherited in an autosomal recessive way.
The disease is named after Dr. Richard Pfeiffer, who described the condition in 1958. He published a case series of 16 patients in the Journal of Pediatrics and a second case series of 10 patients in the American Journal of Medical Genetics in 1959.

The first description of the disease was by Dr. E.H. Stahl and his team at the Children’s Hospital of Philadelphia.

What are the symptoms of Pfeiffer syndrome?
As per the American Society of Human Genetics (ASHG), the main signs of Pfeiffer syndrome include:

Short stature
Short, broad nose
Wide nasal bridge
Short columella

Pointed chin
Small ears

Small hands and feet
Hypoplastic midface
Short neck

Short philtrum
Congenital heart disease
Abnormal dental development

Inheritance of the disease

The ASHG states that the disease is inherited in an autosomal recessive manner.

Symptoms of Pfeiffer syndrome appear early in life and are usually noticed around the time of birth. In a few circumstances, kids are born with distinctive facial markers, including a tiny and broad nose, a wide nasal bridge, a short columella, and a small mouth. Other than facial characteristics, people with Pfeiffer syndrome may have short stature, a large head, and abnormally developed teeth.

Causes of Pfeiffer syndrome

It is unclear why people with Pfeiffer syndrome are often born with congenital heart defects. Many researchers believe that it is related to the fact that the SH3BP1 gene is located near the gene for the protein endoglin. Endoglin is involved in blood vessel growth and development and is often present in the heart and the lungs. It is also associated with the risk of developing cardiovascular disease later in life.

Pfeiffer syndrome is considered a genetic disorder, and it is unclear whether the SH3BP1 gene mutation causes the condition. It may be that other genes in the same chromosome region are also responsible for generating the disease.
There is no known cure for Pfeiffer syndrome. Most cases are diagnosed at birth, but a few may be discovered in late childhood or adolescence.

Treatment of Pfeiffer syndrome
In the first occasional years of life, patients minister the exact as any other child. It is necessary to seek medical alert when the condition shows signs.

It is possible to treat some of the problems associated with Pfeiffer syndrome. In some patients, surgery is used to repair genetic heart defects.

Pfeiffer Syndrome | 5 Important Points

4. Diagnosis and Treatment Options for Pfeiffer Syndrome

This syndrome is ‘Pfeiffer Syndrome,’ first described by a German physician in 1929. The term Pfeiffer syndrome refers to the facial appearance of the patients; it is named after Dr. Fritz Pfeiffer, who first described the condition. This syndrome is characterized by the presence of a cleft palate, high arched palate, widely spaced teeth, and small, widely spaced eyes. The company of polydactyly also describes the condition.

The most common facial features that can be seen in Pfeiffer syndrome are palatal abnormalities, which include a broad cleft palate and a cleft palate with a midline defect; hypoplastic upper incisors; and hypoplasia of the central third of the front. Polydactyly, a common congenital disability, is present in approximately 90% of cases. The most common extra-oral findings are a short neck and large head circumference, prominent ears, broad chest, and micrognathia.

According to medical books, the incidence of Pfeiffer syndrome is 1 in 100,000 to 200,000 births. There is no known genetic basis for the condition. However, a study has suggested that mutations cause the disease in the gene encoding fibroblast growth factor receptor 2 (FGFR2). FGFR2 is a cell surface receptor that functions as a tyrosine kinase and is involved in many cellular processes, including embryonic development.

The main treatment options for the patient include surgery, speech therapy, hearing aids, and behavioral intervention. Patients with Pfeiffer syndrome often have a characteristic facial appearance, making diagnosis difficult. Therefore, it is essential to include a comprehensive physical examination in the initial evaluation of patients with Pfeiffer syndrome.

In the climax, I hope you enjoyed this writing about “Diagnosis and Treatment Options for Pfeiffer Syndrome.” I understand some of you have already heard about this syndrome, but I am sure you will love the information I have provided. If you include any questions regarding this topic, feel free to comment below.

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5. Special Issues in Pregnancy and Prenatal Diagnosis

As per the statistics, the digit of expectant females increases every year. The increasing number of pregnant women is a concern for doctors. During pregnancy, there are specific special issues and conditions that the pregnant woman must be aware of. The doctors will discuss the most common problems and situations during pregnancy. Here are the top 10 special issues and conditions that must be addressed in prenatal diagnosis.

1. Hypertension
Hypertension is a significant concern for pregnant women. The mother must be aware of high blood pressure levels. She should visit her doctor monthly to discuss her blood pressure level. If the group is higher than usual, then medication must be prescribed.

2. Gestational diabetes
Gestational diabetes is another major issue that occurs during pregnancy. Statistics show that 1 in 100 pregnant women is diagnosed with gestational diabetes.

3. High blood sugar
High blood sugar is another common problem during pregnancy. There is a condition called “pregnancy-induced diabetes,” also known as “gestational diabetes.” An abnormally high blood glucose level characterizes the disease.

4. Preeclampsia
Preeclampsia is another common condition that occurs in the second trimester of pregnancy. It is marked by elevated blood pressure, swelling, and headaches.

5. Polyhydramnios
Polyhydramnios is a condition with a higher volume of amniotic fluid in the uterus than usual. It is a common issue in the third trimester of pregnancy.

6. Preterm labor
Preterm labor is another common issue that occurs during pregnancy. It is characterized by the premature rupture of membranes and contractions of the womb.

7. Premature rupture of membranes
Premature rupture of membranes (PROM) is the separation of the fetal membrane. It is a pervasive issue that occurs in pregnancy.

8. Retained placenta
Retained placenta is another common issue that happens in pregnancy. It is characterized by the placenta remaining inside the uterus after childbirth.

9. Vaginal discharge
Vaginal discharge is a common issue during pregnancy. It is characterized by white, yellow, or bloody vaginal discharge.

10. Urinary tract infection
Urinary tract infection is a common issue in pregnancy. It is indicated by the presence of a blazing success when passing urine and frequent urination.

There are some common issues and conditions that occur during pregnancy. These issues must be discussed with the doctor so that he can prescribe the necessary medication and provide the required counseling. I hope you have liked this post.

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