What Is Pallister W Syndrome

  • Tehreem ImanBachelor of Science - BS, Clinical/Medical Laboratory Science/Research and Allied Professions, University of Sharjah
  • Ellie Kerrod BSc Neuroscience - The University of Manchester, England

Pallister W syndrome is a rare genetic condition characterized by peculiar facial features such as down-slanting eyelid folds (palpebral fissures), wide-spaced slanted eyes, cleft palate, and upper lip. This kind of genetic mutation appears during pregnancy and is detectable at the time of delivery because it has an impact on the baby's physical and mental development. It could result in physical impairments like a wide forehead and cerebral incapacity. It is said that the condition is inherited as an X genetic trait.

Pallister-W syndrome, also known as Pallister-Wilkins syndrome or tetrasomy 12p mosaicism, is a rare genetic disorder characterized by an abnormal mosaic pattern of cells. This mosaic pattern results from a chromosomal abnormality where some cells have an extra copy of a portion of chromosome 12, known as tetrasomy 12p, while other cells have the usual two copies. This mosaic distribution of genetic material leads to a wide range of developmental and physical abnormalities, making Pallister-W syndrome a complex and variable condition.

Pallister W syndrome is an extremely uncommon condition. Only six cases had been documented in the medical literature as of the year 2000. More than half of the cases included male newborns, but the sample size is too small to infer that one sex is more affected than the other.1

What causes Pallister W syndrome?

The underlying reason for the genetic mutation is still unknown. The primary genetic mutation causing this group of symptoms is what medical experts are searching for. The fact that it is an autosomal recessive condition is one obvious thing. which asserts that a defective gene can pass to a child if both parents inherit the gene's active or deactivating version. It becomes active in your child's body during the early stages of infancy. The affected person has two copies of the defective gene due to the pattern of inheritance.

Every person carries a few faulty genes. Consanguineous parents are more likely than unrelated parents to share a defective gene, which raises the likelihood that their offspring may develop a recessive genetic condition.

When just one copy of a defective gene is required for the disease to manifest, dominant genetic diseases result. The malfunctioning gene could be caused by a new mutation (gene change) in the ill person, or it could be inherited from either parent. Only when both parents carry the same genetic mutation may this illness be inherited. 

This may also occur if a gene has two copies, one of which is dominant and the other recessive. The likelihood of having a genetic mutation can vary; for instance, there is a 25% chance that a child will be normal with no mutation at all or that they will develop two recessive genes; in this case, there is a 50% chance that the child will become a carrier of the disease without having the associated medical condition.

Symptoms of Pallister W syndrome

Pallister W Syndrome has a wide range of physical and psychological symptoms. In addition to altering a person's facial characteristics, the illness also impairs their cerebral capacities. Pallister W Syndrome's most obvious signs and symptoms include a wide nasal bridge, having a palate and upper lip cleft, a Nose tip is wide, Hypertelorism, a wide flat jaw, Seizures, cranial fissures, and valgus cubitus.

Diagnosis of Pallister W syndrome

It is difficult to detect the condition and to treat the sickness because of the unknown DNA mutation. Only when the baby is delivered can the disease be identified. The youngster will be examined by your medical expert, who will compare the symptoms. The newborn will be kept under observation while the physicians do the necessary tests and medical care for a few days. Diagnosis may include:

Clinical evaluation

A medical geneticist or other healthcare specialist with knowledge of uncommon genetic disorders conducts a comprehensive clinical assessment. This assessment entails a review of the patient's medical background, a physical exam, and a determination of developmental milestones.

Isochromosome 12p can be found by genetic testing, such as chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). These tests examine the person's chromosomes to pinpoint the chromosomal abnormality that is causing the syndrome.

Skin biopsy

Because skin cells are frequently accessible, a skin biopsy may occasionally be carried out to confirm the existence of the isochromosome 12p in skin cells.

Assessment of the mosaic pattern

Determining the mosaic pattern of chromosomal aberrations is a crucial component of the diagnosis. To be certain of the diagnosis, many tissue samples may need to be examined because not all cells in the body possess isochromosome 12p.

Treatment of Pallister W syndrome

Pallister-W syndrome management calls for a comprehensive strategy to treat the multiple medical and developmental issues that affected people confront. Although there is no cure for the ailment, support and treatment can greatly enhance the quality of life for persons who have the syndrome.

Early intervention services

Individuals with developmental delays and issues with motor coordination can achieve their full potential with the aid of early intervention programs, which include physical therapy, speech therapy, and occupational therapy.

Special education

IEPs and specialized educational programs are essential for treating cognitive and learning difficulties.

Medical care

To address any associated health conditions, such as orthopaedic disorders, visual and hearing impairments, and seizures, regular medical checkups and monitoring is crucial. In some circumstances, surgical interventions may be required.

Pallister-W syndrome families may benefit from genetic counseling to better understand the hereditary causes of the disorder and its potential effects on future pregnancies.

Supportive services

Families and individuals with Pallister-W syndrome may benefit emotionally and practically from social services and support networks.

Individuals with developmental delays and issues with motor coordination can achieve their full potential with the aid of early intervention programs that include physical therapy, speech therapy, and occupational therapy. The Pallister W Syndrome will be treated individually for each symptom. Medication, surgery, and treatments for both physical and emotional wellness are typically included. To help families cope with mental stress, medical practitioners advise them to attend medical counseling sessions.

The prognosis for individuals with Pallister-W syndrome can vary widely based on the severity of their symptoms and the level of support and intervention they receive. While the condition is lifelong and there is no cure, early intervention, and supportive care can help individuals with Pallister-W syndrome lead fulfilling lives.


A mosaic pattern of genetic defects characterizes the rare genetic condition known as Pallister-W syndrome. The importance of early diagnosis and intervention is based on the complexity that results in a wide variety of symptoms and clinical traits. Pallister-W syndrome has no known cure, but a comprehensive approach to management and treatment can greatly enhance the quality of life for those who suffer from it. 

Our knowledge of this uncommon genetic disorder will grow as research progresses, potentially resulting in more effective therapies and support for persons who have Pallister-W syndrome.


  1. Pallister w syndrome - symptoms, causes, treatment | Nord [Internet]. [cited 2023 Sep 2]. Available from: https://rarediseases.org/rare-diseases/pallister-w-syndrome/
  2. Pallister-w syndrome (Concept id: c0796110) - medgen - ncbi [Internet]. [cited 2023 Sep 3]. Available from: https://www.ncbi.nlm.nih.gov/medgen/163215
  3. Entry - 311450 - pallister w syndrome - omim [Internet]. [cited 2023 Sep 3]. Available from: https://www.omim.org/entry/311450
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Tehreem Iman

Bachelor of Science - BS, Clinical/Medical Laboratory Science/Research and Allied Professions, University of Sharjah

I am a dedicated undergraduate student pursuing a Medical Laboratory Sciences degree at the prestigious University of Sharjah. I have been a member of the American Academy of Developmental Medicine and Dentistry Newsletter, where I honed my medical writing skills and gained significant experience in conducting interviews. I have promoted cancer awareness as an Overseas Ambassador for the esteemed Shaukat Khanum Memorial Cancer Hospital and Research Centre. In addition, a rewarding internship at the World Wide Fund For Nature and committed community work have helped me to advance my practical expertise.

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