What is it?
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet.
- JWS is now known to be a member of a group of conditions caused by mutations in the FGFR genes including:
- Apert syndrome
- Crouzon syndrome
- Beare-Stevenson syndrome
- FGFR2-related isolated coronal synostosis,
- Pfeiffer syndrome
- Crouzon syndrome with acanthosis nigricans
- Muenke syndrome
- This condition appears to affect males and females in equal numbers.
Cause
- Jackson-Weiss syndrome is caused by a mutation in the FGFR2 gene.
- The FGFR2 gene regulates the production of a protein known as a fibroblast growth factor receptor (FGFR).
- Genetic mutations that disrupt the functioning of such proteins may result in certain abnormalities during embryonic development, such as premature fusion of the craniofacial area and the limbs.
- A number of syndromes have been identified that are associated with mutations of the FGFR2 gene including Crouzon, Pfeiffer, and Apert syndromes.
- Most individuals with a FGFR2 gene mutation associated with JWS will have symptoms and findings associated with the disorder, but range and severity may vary greatly from person to person.
- JWS is an autosomal dominant genetic disorder.
- Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease.
- The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.
- The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy.
- The risk is the same for males and females.
National Organization for Rare Disorders Jackson-Weiss syndrome
Symptoms
(Symptoms can vary between individual to individual)
- Premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis)?
- Top of the head to appear pointed or conical (acrocephalic)?
- Headache which is on and off or a constant headache longer than 24 hours (Parent/Adult: gently massage head of baby/young child for relief) / (pressure like feeling in head)?
- Bulging forehead?
- Difficult to concentrate / difficulty in concentrating/memory problems and/or learning difficulties?
- Flat back of the head (Brachycephaly)?
- Wide-set eyes (ocular hypertelorism)?
- Disturbances in vision?
- Drooping of the upper eyelids (ptosis)?
- Squinting eyes causing one of the eyes to turn inwards, outwards or upwards, while other eye looks forward and/or tilting head to one side and/or one eye is closed regularly when focusing (strabismus)?
- Low and/or depressed nasal bridge?
- Small jaw and/or small mouth and/or Small lower part of the face?
- Cleft lip and/or high arched palate (roof of the mouth)?
- Malformed ears?
- Unusually flat, underdeveloped midfacial regions (midfacial hypoplasia)?
- Joint movements and/or a condition in which the legs are abnormally curved inward with the knees close together and the ankles widely separated (genu valgum)?
- Webbed or fused second and third toes (syndactyly)?
- Abnormally short, broad great toes that may bend inward (varus deformities)?
- Malformation or fusion of certain bones within the body of the feet (metatarsals), the ankles (tarsal bones), and/or the heels (calcanei)?
Complications /Information to beware of/General tips:
Medical Emergency Condition
And/or do not wait, phone for an ambulance if have or develop:
This condition can lead to:
- Hydrocephalus:
- A condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the skull.
- Hydrocephalus often results in increased fluid pressure and abnormal enlargement of the cavities (ventricles) within the brain.
This condition may show similar symptoms to:
These conditions are very difficult to diagnose, a specialist opinion is required.
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Detailed Information
Please copy and paste any key words from the title: Jackson-Weiss syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
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- National Organisation of Rare Diseases
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