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Carpenter Syndrome - Causes, Symptoms, Diagnosis, and Treatment

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Carpenter syndrome is a genetic disorder characterized by the pointed shape of the head, webbing, and the presence of extra digits. Read further to know more.

Written by

Dr. Asna Fatma

Medically reviewed by

Dr. Mohammad Rajja

Published At December 13, 2022
Reviewed AtJune 27, 2023

What Is Carpenter Syndrome?

Carpenter syndrome is a type of rare genetic group of conditions known as "acrocephalopolysyndactyly" disorders. All kinds of acrocephalopolysyndactyly are characterized by the following:

  • Craniosynostosis: Premature closure of the fibrous joints between some of the bones of the skull.

  • Acrocephaly: The pointy appearance of the head due to premature closure of the sutures.

  • Syndactyly: Fusions of digits (fingers and toes).

  • Polydactyly: The presence of more than the average number of digits.

Carpenter syndrome is also called acrocephalopolysyndactyly disorder (ACPS) type 2. Therefore, to summarize, Carpenter syndrome can be defined as a condition marked by deformities of the fingers and toes, developmental issues, characteristic facial abnormalities, and the early fusion of certain skull bones. Carpenter syndrome is classified as; Carpenter syndrome type 1 and Carpenter syndrome type 2. In 1901 two sisters and one brother were diagnosed with Carpenter syndrome for the first time. Carpenter syndrome, however, was not identified as a separate disease entity until 1966.

What Causes Carpenter Syndrome?

Carpenter syndrome is a genetic disorder that occurs due to mutation or variations in a particular gene. A RAB23 gene mutation typically causes Carpenter syndrome. The RAB23 gene codes for a protein that is necessary for vesicle trafficking, a process that transports proteins and other molecules inside cells in sac-like structures known as vesicles.

However, the condition may also develop in a small group of people due to MEGF8 gene mutation. The MEGF8 gene is responsible for providing instruction for the formation of specific proteins whose functions are still unknown. According to the structure of the gene, it is speculated that it may be responsible for helping proteins connect with one another and for cell adhesion. The same mutations may affect members of the same family, yet they may have various symptoms of varying severity (intrafamilial variability).

Carpenter syndrome is inherited in an autosomal recessive manner, which means a person receives two copies of an atypical gene for the same trait, one from each parent. Individuals with MEGF8 gene mutations are more probable than those with RAB23 gene mutations to have dextrocardia (presence of heart on the right side of the chest), various abnormalities of organ placement, and less severe craniosynostosis. However, the cause of this difference is also unknown.

What Are the Symptoms of Carpenter Syndrome?

The symptoms of Carpenter syndrome include:

  • Acrocephaly: Carpenter syndrome frequently manifests at birth or very soon after. The top of the skull may appear abnormally conical due to craniosynostosis.

  • Brachycephaly: The head may appear short and broad.

  • Craniofacial Asymmetry: Uneven fusion of the cranial sutures frequently results in distinct differences between the skull and face when viewed from different angles.

  • Eye fold appears down, slanting.

  • Flat nasal bridge.

  • Low-set and misshapen ears.

  • Hearing loss.

  • Crowded and crooked teeth.

  • Small and underdeveloped upper and lower jaws.

  • Abnormally short fingers and toes.

  • Soft tissue partial fusion between certain digits. Soft tissue fusion in digits is most common between the third and fourth fingers.

  • The presence of extra digits (fingers or toes) is also known as supernumerary digits.

  • Short height or stature.

  • Congenital heart defects with respect to the position and structure of the heart.

  • Obesity (mild to moderate).

  • Abdominal wall weakness could allow the intestine to protrude near the navel.

  • Testes fail to descend to the scrotum.

  • Intellectual disabilities (mild to moderate). Some people with this illness do, nevertheless, have average intellect. Since the severity of craniosynostosis does not seem to be associated with the severity of intellectual disability, the cause of intellectual disability remains unknown.

  • Knees angled inward, a rounded upper back like kyphoscoliosis or hunchback, and other skeletal abnormalities, including malformed hips, are also frequently seen.

  • Occasionally, individuals with Carpenter syndrome will have tissues or organs in their chest and abdomen that are present in the mirror-image position. This unusual positioning could impact multiple internal organs.

How Common Is Carpenter Syndrome?

Carpenter syndrome is rare with only 70 cases documented in scientific literature. Both genders are equally affected by Carpenter syndrome. The same mutation was found in 10 patients during gene analysis for the disease. High genetic condition incidence in small or inbred communities is due to a common ancestor with a disease-causing mutation, indicating a founder effect in patients of northern European heritage.

How Is Carpenter Syndrome Diagnosed?

Carpenter syndrome is diagnosed in the following ways:

  • Based on a clinical examination and characteristic symptoms, a healthcare professional may suspect Carpenter syndrome. However, it has symptoms and signs similar to that of Greig cephalopolysyndactyly syndrome, another genetic disorder. These two conditions can be misdiagnosed due to their overlapping characteristics, which include craniosynostosis, polydactyly, and cardiac abnormalities; further investigations and genetic testing are frequently necessary for a precise diagnosis.

  • Imaging tests like a CT (computed tomography) scan and MRI (magnetic resonance imaging) may be done to see the structural abnormalities present in the skull, heart, skeleton, and other organs.

  • Heart functioning may be evaluated with the help of an electrocardiogram (EKG) or echocardiogram (ECG).

  • Hearing tests may also be done.

  • Preimplantation genetic testing or prenatal testing before birth may be advised if a family has a Carpenter syndrome mutation history. This may involve amniocentesis, which evaluates amniotic fluid, or chorionic villus sampling, which examines a portion of the placenta. This test is frequently performed along with prenatal ultrasonography. An ultrasound can show an unusually shaped head, extra toes or fingers, heart problems, organs placed incorrectly, etc.

How Is Carpenter Syndrome Treated?

Carpenter syndrome is treated according to the distinct symptoms that are present in each patient. Such care might necessitate the coordinated efforts of a group of medical experts.

  • Early surgery may be suggested to help prevent or treat premature closure of cranial sutures because craniosynostosis can occasionally result in abnormally elevated pressure on the brain and inside the skull (intracranial pressure). In addition, according to certain reports, early surgical intervention may, in some cases, aid in preventing intellectual disability.

  • To help rectify further craniofacial malformations, polydactyly, syndactyly, and other skeletal defects related to the disease, corrective and reconstructive surgery may, in some cases, also be advised.

  • Congenital heart problems may also require therapy with specific drugs, surgical treatment, and/or other treatments. The extent and site of the anatomical abnormalities, their related symptoms, and other considerations will influence the surgical procedures that are carried out.

  • Orthodontic surgery may be done to correct dental problems.

  • A hearing aid is advised for people with hearing impairment, and speech therapy may be recommended for individuals with speech impairment.

  • Early intervention may be crucial for children with Carpenter syndrome to attain their full potential. Specific physical therapy and other medical, social, or vocational assistance are a few of the special services that may be advantageous to the affected children.

What Is the Life Expectancy of a Person With Carpenter Syndrome?

Giving an accurate estimation of the life span of an individual with Carpenter syndrome can prove to be difficult. The uncommon occurrence of the disorder makes it difficult to obtain extensive information on lifetime prognosis and long-term effects. Moreover, the prediction of a patient's outcome may rely on the particular genetic mutations present and their correlated medical issues. The occurrence of Carpenter syndrome may lead to potential health complications encompassing delays in development, heart anomalies, and respiratory troubles. The way these complications are managed and the predicted outcome can differ among individuals. With suitable healthcare and interventions, some people with Carpenter syndrome can live a typical lifespan. However, others might face serious health difficulties that could affect their longevity.

Conclusion

Although Carpenter syndrome is a genetic condition and cannot be prevented, a couple can undergo preimplantation genetic testing to help mitigate the possibility of having a child with Carpenter syndrome. Some affected kids go on to lead independent lives as adults. However, some people with intellectual and physical impairments require long-term medical and social support.

Frequently Asked Questions

1.

Define Carpenter Syndrome in Endocrinology.

Carpenter syndrome is a rare genetic disorder that affects the development of multiple organs in the body. The RAB23 gene mutation causes the disease. The RAB23 is involved in the embryonic development process. The disease is characterized by premature fusion of skull bones. The premature fusion can lead to an abnormally shaped head or face.

2.

How Can Carpenter Syndrome Be Treated?

The treatment is to manage the symptoms and complications. The treatment options include:
- Cranial Surgery: The surgery corrects craniosynostosis, which increases intracranial pressure. 
- Speech Therapy: The doctor may prescribe speech therapy to treat speech and language delays.
- Vision and Hearing Support: Some children require hearing aids, eyeglasses, and other support devices to treat vision and hearing. 
- Orthopedic Management: Some children may require bracing or surgery to treat skeletal abnormalities.
- Developmental Support: Occupational and physical therapy improves the overall quality of life.

3.

Is Carpenter Syndrome Uncommon?

Carpenter syndrome is a rare and uncommon genetic disorder. The disease affects people less than one in 1,000,000 individuals worldwide. The disease is not properly reported due to its rarity. The disease is a genetic disorder that means an individual inherits two copies of the mutated gene. To develop a disorder, an individual may inherit one mutated gene from each parent.

4.

Which People Are Affected by Carpenter Syndrome?

Carpenter syndrome can affect individuals of any age, race, and sex. The autosomal disorder is more common with higher rates of related parents. The disease is more common in the ethnic groups of North Africa and the Middle East. the rare disorder is diagnosed in infancy or the early childhood stage.

5.

What Are the Other Names for Carpenter Syndrome?

The alternative name refers to the feature of the disorder:
- Acrocephalopolysyndactyly type 2.
- Acrocephalosyndactyly type 2.

6.

What Are the Signs and Symptoms of Carpenter Syndrome?

Carpenter syndrome affects the development of the face, head, and limbs. The features are as follows:
- Craniosynostosis: Premature fusion of the skull bones can lead to increased intracranial pressure and an abnormally shaped head.
- Facial Abnormalities: This includes widely spaced eyes, a prominent forehead, a small nose, and a small jaw.
- Limb Abnormalities: There may be polydactyly (extra hand or toe fingers) and syndactyly (fusion of hand and toe fingers). The feet and hands are abnormally shaped.
- Developmental Delays: Children may experience delays in language and speech.
- Vision and Hearing Problems: Individuals with the condition may experience nearsightedness, farsightedness, and hearing loss.
- Skeletal Abnormalities: Individuals with the condition may feel abnormal curvature in the spine, fingers, and toes.
 

7.

Who Introduced Carpenter Syndrome?

 
An American physician and geneticist, Dr. Edmund Carpenter, introduced Carpenter syndrome in 1901. He published the case report of a child with polydactyly, craniosynostosis, and skeletal abnormalities. So, the condition is named acrocephalopolysyndactyly. In 2003, researchers identified mutations in the RAB23 gene as an underlying cause of the condition.

8.

Can a Person Live a Healthy Life With Carpenter Syndrome?

The severity of the condition varies among affected individuals. Some people may live a normal, healthy life with treatment and support. The disease can affect multiple organs, resulting in physical and developmental disabilities. The severity of symptoms impacts an individual quality of life.
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Dr. Mohammad Rajja
Dr. Mohammad Rajja

General Practitioner

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