Mucopolysaccharidosis Type VII

Symptoms

What are the main symptoms of Mucopolysaccharidosis Type VII?

Mucopolysaccharidosis type VII (MPS VII) is a progressive condition, meaning that symptoms will get worse over time, although the speed at which symptoms worsen will vary from person to person. In the most severe cases of MPS VII, babies are either stillborn or die soon after birth and are affected by a condition called hydrops fetalis, where excess fluid builds up in the body before birth. The main symptoms include:

  • skeletal abnormalities - short stature, joint contractures (shortening or hardening of the joints which limits movement), and narrowing of the spinal cord
  • a large head (macrocephaly)
  • too much fluid in the brain (hydrocephalus)
  • distinctive facial features that may be described as "coarse", including a large tongue (macroglossia)
  • heart valve abnormalities
  • an enlarged liver and spleen (hepatosplenomegaly)
  • a soft out-pouching around the belly-button (umbilical hernia) or lower belly (inguinal hernia)
  • a narrow airway which can cause frequent respiratory infections and sleep apnea (when there are pauses in breathing or very shallow breaths during sleep)
  • the cornea (clear covering of the eye) may become cloudy and cause vision loss
  • recurrent ear infections and hearing loss
  • Short stature
  • Enlarged tonsils and adenoids

It is important to note that not all of these symptoms will occur in every individual affected by MPS VII. Some individuals may also have delays in their development and learning disabilities.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
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More Symptoms Content

Are there earlier onset, later onset, or variant forms of Mucopolysaccharidosis Type VII?

What health problems should I look for in Mucopolysaccharidosis Type VII?

Any other diseases that look a lot like Mucopolysaccharidosis Type VII (phenocopies, differential diagnoses)?

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Mucopolysaccharidosis Type VII?

Is there variable expression or incomplete penetrance in Mucopolysaccharidosis Type VII?

If this is a predisposition gene, what the chances I will get Mucopolysaccharidosis Type VII?

Are there earlier onset, later onset, or variant forms of Mucopolysaccharidosis Type VII?

Some people with mucopolysaccharidosis type VII (MPS VII) have severe symptoms before they are even born and this causes a buildup of fluid in different parts of the body. Babies with this buildup of fluid (hydrops fetalis) often pass away with birth or pass away in the first few weeks or months of life. It is estimated that ~40% of patients have a history on non-immune hydrops fetatalis. Other people with MPS VII have severe symptoms that begin in the first few years of life, but some people have a moderate form of the condition and some have a mild (attenuated) form of MPS VII. The moderate and mild forms of MPS VII usually have symptoms that begin in early childhood, but these symptoms may be less severe than those of people with the severe form of MPS VII. There is currently no definite way to predict how severe someone's symptoms will be.

As all MPS disorders are progressive, individuals with MPS VII will have skeletal problems that progress and become more severe over time.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What health problems should I look for in Mucopolysaccharidosis Type VII?

In addition to the main health issues in mucopolysaccharidosis type VII (MPS VII):

  • skeletal abnormalities - short stature, joint contractures (shortening or hardening of the joints which limits movement), and narrowing of the spinal cord
  • a large head (macrocephaly)
  • too much fluid in the brain (hydrocephalus)
  • distinctive facial features that may be described as "coarse", including a large tongue (macroglossia)
  • heart valve abnormalities
  • an enlarged liver and spleen (hepatosplenomegaly)
  • a soft out-pouching around the belly-button (umbilical hernia) or lower belly (inguinal hernia)
  • a narrow airway which can cause frequent respiratory infections and sleep apnea (when there are pauses in breathing or very shallow breaths during sleep)
  • the cornea (clear covering of the eye) may become cloudy and cause vision loss
  • recurrent ear infections and hearing loss
  • Short stature

Other health problems may include carpal tunnel syndrome, where there is numbness, tingling, or weakness in the hands and fingers, as well as diarrhea and constipation. Some individuals may have delays in their development or intellectual disabilities.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
Any other diseases that look a lot like Mucopolysaccharidosis Type VII (phenocopies, differential diagnoses)?

They are several different kinds of mucopolysaccharidosis (MPS) conditions (types I, II, IVA, and VI) that may look similar to MPS VII because they have similar symptoms early on in life. However, as symptoms progress, it becomes easier to distinguish between the different types. Urine testing for various compounds can also help to narrow down the type of MPS. Some genetic conditions called mucolipidoses may also present similarly to mucopolysaccharidoses. It is important to talk to a doctor who has experience with patients with these conditions in order to be properly diagnosed.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://www.orpha.net/data/patho/Pub/en/Mucopolysaccharidoses_En_2013.pdf
Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Mucopolysaccharidosis Type VII?

MPS VII is the only type of MPS that can present at or before birth. Only in the rarest of cases are the signs of MPS VII not apparent at birth. There are a few key features of people affected with mucopolysaccharidosis type VII (MPS VII) that distinguish them from those with other types of genetic conditions. People with MPS VII have unique "coarse" facial features from the build up of glycosaminoglycans (GAGs) caused by genetic changes in the GUSB gene, which causes a thickening of the nose, lips, and tongue. The buildup of GAGs can also cause clouding of the cornea (the clear outer layer) in the eye. However, many of the other symptoms of MPS VII can also be found in conditions within the same family, that is, other types of mucopolysaccharidoses.

References
  • http://www.omim.org/entry/253200?search=mps%20VI&highlight=vi%20mp
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Is there variable expression or incomplete penetrance in Mucopolysaccharidosis Type VII?

Each person with mucopolysaccharidosis type VII (MPS VII) will have different symptoms and different severity of disease. This is called variable expression. In MPS VII disease severity can range from attenuated (mild) to severe. Babies with severe MPS VII will have symptoms before they are even born, including a condition called hydrops fetalis, which is a buildup of fluid in different parts of the body. Babies with hydrops fetalis often pass away with birth or pass away in the first few weeks or months of life. Other people with MPS VII have severe symptoms that begin in the first few years of life, but some people have a moderate form of the condition and some have a mild (attenuated) form of MPS VII. The moderate and mild forms of MPS VII usually have symptoms that begin in early childhood, but these symptoms may be less severe than those of people with the severe form of MPS VII. There is currently no definite way to predict how severe someone's symptoms will be.

References
  • https://www.orpha.net/data/patho/Pub/en/Mucopolysaccharidoses_En_2013.pdf
If this is a predisposition gene, what the chances I will get Mucopolysaccharidosis Type VII?

Having genetic changes in the GUSB gene associated with mucopolysaccharidosis type VII (MPS VII) is not a predisposition, but a cause of MPS VII. We all have two copies of GUSB in each of our cells and both of these copies need to have changes in order for someone to have MPS VII. If an individual only has changes in one copy, then they are called a carrier and do not have any symptoms. No other conditions are associated with changes in the GUSB gene.

References

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