National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pallister W syndrome



Other Names:
W syndrome; Median cleft upper lip, mental retardation and pugilistic facies
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2804

Definition
W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 34 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the scalp hair 0100037
Acne 0001061
Agenesis of maxillary central incisor 0006293
Alternating esotropia
Alternating cross eyes
0001137
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
0000455
Broad uvula 0010809
Camptodactyly
Permanent flexion of the finger or toe
0012385
Clinodactyly
Permanent curving of the finger
0030084
Cubitus valgus
Outward turned elbows
0002967
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ]
0003042
Global developmental delay 0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Metatarsus adductus
Front half of foot turns inward
0001840
Pes cavus
High-arched foot
0001761
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Radial bowing
Bowing of outer large bone of the forearm
0002986
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Submucous cleft hard palate 0000176
Telecanthus
Corners of eye widely separated
0000506
Upper lip pit 0100268
Percent of people who have these symptoms is not available through HPO
Agenesis of central incisor
Absent central incisor
0006289
Frontal bossing 0002007
Frontal upsweep of hair
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
0002236
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Joint contracture of the hand 0009473
Radial deviation of finger 0009466
Seizure 0001250
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
X-linked inheritance 0001417
Showing of 34 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Pallister W syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pallister W syndrome. Click on the link to view a sample search on this topic.

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