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Frequently asked questions for
families just receiving a diagnosis of dwarfism:
Spondyloepiphyseal Dysplasia (SED)
or Spondylometaphyseal Dysplasia (SMD) or Kniest

  1. How is this diagnosis made?
  2. Did we somehow cause this?
  3. Will this affect her intelligence?
  4. How tall will she be?
  5. Are there any serious medical concerns associated with this?
  6. Which doctor should my child see?
  7. Are there any precautions I need to take with my child?
    As an infant?
    As a toddler?
    As a child?
  8. Will it affect my child's social life?
  9. What kind of career will she be able to have?
  10. Will my child be able to lead an independent life?
  11. How can I talk with other families with a similar diagnosis?
  12. Why won't my doctor answer these questions?

Navigation links to other sections of this website.



1) How is this diagnosis made?

Some conditions are better understood than others. A geneticist can usually provide a specific diagnosis for dwarfing conditions or skeletal dysplasias. Skeletal dysplasias are a very complex group of conditions. Scientists are learning more and more about these complex diagnoses. Therefore, it is possible for an individual's diagnosis to be modified or changed to more accurately describe the condition. However, a change in the name of the diagnosis usually does not change an individual's prognosis (what is expected to happen with the condition).

Some forms of SMD-K, SEDC, and Kniest have genetic tests. SEDC, SMD-K, and Kniest are diagnosed with X-rays and clinical symptoms and sometimes confirmed with genetic diagnosis. Please see the clinical summaries page for more information about symptoms of different conditions.

Just as sisters and brothers look different, people wit the same diagnosis can look very different. People with SEDC can be very short, or shorter than average. Every case is different. People with the same kind of dwarfism can look quite different and have different physical symptoms.

A helpful introduction to dwarfism for new parents: http://kidshealth.org/parent/medical/bones/dwarfism.html

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2) Did we somehow cause this?

No. Genetic changes or mutations happen randomly. Nothing you did contributed in any way to this condition.

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3) Will this affect her intelligence?

Intelligence is not affected. People born with SED, SMD, and Kniest usually have normal intelligence.

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4) How tall will she be?

It is hard to tell how tall your child will be.

There is a lot of variation among people with the same diagnosis. Growth hormones are not likely to add much height to either of these conditions, as the levels of growth hormones are normal and cells are reacting to them appropriately.


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5) Are there any serious medical concerns associated with a diagnosis of a skeletal dysplasia?

There may be. It is important to learn as much as possible about the condition and establish a good relationship with your family physician and a skeletal dysplasia clinic. Some potential complications, such as retinal detachment and back problems, can be prevented if caught in time. Please see the detailed medical write-ups we have on the SED and SMD and Kniest family of conditions and what potential complications to be aware of.

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6) Which doctor should my child see?

Your child's primary care physician needs to be in touch with someone who specializes in skeletal dysplasias dwarfism). If a medical provider claims to have seen many cases like yours, ask how many. These conditions are very rare. It is vital to contact a well-known skeletal dysplasia center for guidance and direction in your child's care. A little bit of knowledge can be very dangerous. You can contact Little People of America (LPA), http://www.lpaonline.org or see the skeletal dysplasia clinic list to set up an appointment at a skeletal dysplasia clinic where you will be seen by medical professionals are very experienced with skeletal dysplasias. Insurance companies frequently pay for such out-of-plan visits to these clinics since SED and SMD and Kniest are rare conditions.

You may need to make some very important medical decisions with your doctor and so it is vital you are well informed about potential complications and treatments.

Free medical appointments with specialists are available at Little People of America Conferences.

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7) General medical precautions to take if your child is a dwarf:

More specific precautions for:

As an infant who has a skeletal dysplasia?


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As a toddler who has a skeletal dysplasia?

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As a child who has a skeletal dysplasia?

Do not use standard height and weight charts. For example, people with Spondylometaphyseal Dysplasia Type Koslowzki (SMD-K) have proportionally longer limbs and can be a good deal heavier than a dietician suggests and not be overweight. The standard height and weight charts simply do not apply.

A lean person with SMD-K can appear severely overweight and even obese using height and weight charts calculated for average statured people. The psychological damage that can result when a medical provider labels a perfectly fit child overweight can contribute to an eating disorder. This is an area where medical providers, including those at skeletal dysplasia clinics, may need to be educated. Use common sense to determine if you child needs to lose weight.

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8) Will it affect my child's social life?

Any person with a difference runs the risk of being teased. Being shorter than average has its advantages, such as the fact that people recognize and remember you. Short-statured people have satisfying careers and live long and productive lives. There are many after school activities that children with SED or SMD or Kniest can and should participate in such as managing a sports team, editing a paper, being on a swim team, and running for student government.

For information on supporting your child in social situations see http://www.shortsupport.org/. Also see Question 10 and the Family Stories section for potential social aspects concerning living with a skeletal dysplasia.

For information about preventing bullying, visit the KSG Anti-Bullying page.

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9) What kind of career will she be able to have?

Almost any career she wants. Being a professional athlete is probably not likely, but all others are possible. Dwarfs work as doctors, lawyers, entertainers, politicians, teachers, psychologists, statisticians and many, many more occupations. For more on this topic, please see Fred's list, http://www.lpaonline.org/library_fredslist.html

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10) Will my child be able to lead an independent life?

Yes. If your child has physical problems (either related or not related to dwarfism) there are many resources and advocates to help. They work with parents, medical providers, and school systems.

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11) How can I talk with other families with a similar diagnosis?



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12) Why won't my doctor answer these questions?

 

If your medical provider can answer some of these questions, great!

However, many medical providers have not treated someone with a skeletal dysplasia before and simply do not know. In addition, for insurance reasons (concerns that they will spend too much money on one patient), they may be not want to give out information regarding potential treatment. On the other hand, they may be reluctant to miss anything. Rather than risk being liable for a complication they missed, they list every possible one. Even though most of the potential complications do not occur, it can be completely overwhelming and inappropriate for a new parent to receive information this way.

A good physician will give you all the information s/he knows and involve you, as a parent, as part of the decision making process. You should ask for the best case scenario and the worst case scenario. You and your medical team should be prepared for those cases, and everything in between.

Visit the KSG Advocacy Center for more information on getting the most from doctor visits.

See medical dictionary page for examplanations of medical terms.


Please contact us or email support@ksginfo.org if you have any questions. Your comments are important to us.

 

Picture of a child with Kniest
A child with Kniest. This photo was take at a KSG event.

All photographs on this Web site are the copyrighted property of the individuals pictured, and have been posted with their permission.
All rights reserved. To obtain legal copies of these photographs for any purpose whatsoever, email support@ksginfo.org.


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