Frequently Asked Questions


Q: What precautions should be taken when an LP requires anesthesia for a medical procedure?

A:  Anytime that anesthesia is required for an LP, the anesthesiologist should become informed regarding the patient's condition, the patient's medical history and published recommendations on anesthesia and dwarfism. Though many recommendations will vary depending on an individual's diagnosis and medical history, there are some general recommendations/considerations that the anesthesiologist and surgeon should be aware of:

-Any previous complications for the patient with anesthesia

-Cervical spine films (flexion and extension) to assess the airway and potential instability and or spinal compression.

-The patient's neurological history. The patient, especially if a child, should have a neurology evaluation prior to surgery if one has not been done within the last year.

-Intubation should be performed without forced neck hyperextension

-Weight (as opposed to age or height) should be used to determine size of endotracheal tube and amounts of drugs given.

-Direct bronchoscopic visualization should be used for intubation

-The patient should have a pre-operative assessment of the airway to anticipate potential need for alternative techniques.

Specific considerations for various diagnosis are listed in the article "Dwarfs: Pathophysiology and Anesthetic Implications" which is available on this web site under the topic of Anesthesia. We would recommend that you print this article to share with your surgeon and/or anesthesiologist prior to any surgery.

Ericka Peasley, MS, Genetic Counselor

Q: What physical activities might be dangerous for an LP child to participate in?

A: Once again, the answer will vary somewhat according to the child's diagnosis and medical history, but some general precautions include avoiding the following activities:

-Tackle football or other full contact sports, such as rugby, hockey, and wrestling.

-Jumping on a trampoline

-Hanging from monkey bars or other play structures by knees or ankles.

-Heading the ball in soccer (European football).

-Tumbling activities

-Any game in which the ball is thrown directly at the child
-Jumping down from high places (usually jumping in place or off of one step is safe)

It is strongly recommended that all children with dwarfism be as active as possible. This is important for the development of muscles to support their body and for weight management. It is also important on a social level that an LP child be allowed to participate in physical activities with peers, except for those activities with a high risk for harm. It is recommended that each individual talk with his/her geneticist, orthopedist or other specialist on dwarfism, who is familiar with the child's diagnosis and medical history, about which activities would be best for him/her to participate in as well as those that would be the most dangerous.

Ericka Peasley, MS, Genetic Counselor


Q: Do LPs have any more psychiatric problems or psychological problems than other people?

Although no formal studies have been done, as far as we know, LPs do not have any higher rates of psychiatric problems such as bipolar disorder, schizophrenia, or severe depression than other people do. There may be a higher rate of psychological problems such as minor depressive symptoms and anxiety in those people who have serious medical problems associated with their skeletal dysplasia, or in those who experience other forms of serious adversity such as discrimination, etc.

Carol Mathews, M.D., Psychiatrist


Q: Is the treatment for psychiatric/psychological problems different for LPs?

The treatment for psychiatric and psychological problems is essentially the same for LPs as for other people. For psychological problems, counseling or psychotherapy is generally recommended. For LPs as for everyone, finding a good fit between the patient and the therapist is the key here, rather than specific form of training, etc. For psychiatric problems, the medications used are the same. Dosing of medications should be examined carefully and dosed according to body weight, or when available, blood levels of the medication, rather than just using standard doses, as LPs are smaller and often weigh less than average sized people.

Carol Mathews, M.D., Psychiatrist


Q: Will a particular individual with short stature have affected children?

The answer is: "whether a person with short stature will have children who have the same type of short stature is completely dependent upon the particular type of short stature they have." Most types of disproportionate short stature do have a genetic basis, but there are many different ways that genetic conditions run in families; autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.

The most common type of disproportionate short stature is achondroplasia. Most affected individuals have been born to average sized parents and there has been a change in the genetic code for the achondroplasia gene. This is called a new mutation. Those average sized parents have very little chance of having another short statured child. However, once the individual has achondroplasia, there is a 50% chance with each pregnancy that their own child will inherit the achondroplasia gene and a 50% chance the child will have average stature.

This is also true for pseudoachondroplasia and most forms of spondyloepiphyseal dysplasia congenita. However, the overall probability that the person with Achondroplasia has a short-statured child is also determined by whether their partner has short stature. The 50% risk is related to having children with an average-sized partner.

If they have children with someone who also has short stature, the specific risks depend on the type of short stature the partner has as well. A number of conditions are what is called 'autosomal recessive', which include: diastrophic dysplasia, cartilage hair hypoplasia and acromesomelic dysplasia. These autosomal recessive conditions are inherited in an autosomal recessive pattern which means that the average-sized parents are carriers and the affected individual has received an altered gene from each parent. The recurrence risk, that is, the chance of having another affected child for average-sized parents is 25% for each subsequent pregnancy, and a 75% chance that they will have an average-sized child. Two-thirds of those average-sized siblings will be carriers like the parents.

When someone with an autosomal recessive type of disproportionate short stature marries someone of average size and has a child, the child will be a carrier and not affected unless they marry someone with the same type of disproportionate short stature. There are X-linked dominant types of disproportionate short stature such as Vitamin D resistant rickets. In that situation males may also be more severely affected than females, but females will also have disproportionate short stature.

Recurrence risk gets complicated in these situations, and it is best to discuss them with a genetic counselor. As individuals are growing up, or as they start to date, it is often worthwhile for an LP to discuss the inheritance pattern of their particular type of short stature with their parents, a genetic counselor or at an LPA Meeting, so that they can have a real understanding of what their chances of having an affected child are (as well as the availability of testing in their family, prenatal diagnosis and reproductive options). The chances of having a child with short stature is determined by both the type of short stature and whether the partner is also short.

Judith G. Hall, OC, MD, Medical Geneticist



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