Hypochondroplasia

Is hypochondroplasia associated with mucosal tissue problems, such as frequent severe nosebleeds?

After an extensive search of the resource available to us, we were unable to find an association between hypochondroplasia and nosebleeds.

Last updated on 05-01-20

Is hypochondroplasia associated with delayed closure of the fontanelle?

Much of what we know regarding the signs and symptoms of hypochondroplasia is taken from individual case reports and small studies. One case report described two people with hypochondroplasia who had a large head circumference with delayed closure of the fontanels. There has also been very rare reports of children with hypochondroplasia with craniosynostosis (or premature fusion of cranial sutures).

Last updated on 05-01-20

Is hypochondroplasia associated with speech-language impairment?

Yes. While many people with hypochondroplasia have no issues, recent studies suggest that people with hypochondroplasia have an increased risk for problems with development and learning. For those with neurodevelopmental symptoms a recent study by Linnankivi et al., 2012 described prominent problems being in "expressive language and in attention."

Last updated on 05-01-20

Is there a way to improve bone growth in individuals with hypochondroplasia?

Some affected children with severe short stature and disproportion of the body may respond to growth hormone (GH) therapy with an increase in spinal length. This along with a surgical leg-lengthening procedure may make it possible for some individuals to reach adult heights within the normal range.

Some children who have proportionate short stature and hypochondroplasia do not increase their growth rate at puberty. Others seem to grow normally during puberty. However, there is no way of predicting who will undergo a normal growth spurt during puberty. Therefore, affected individuals may be monitored during childhood and given GH treatment only if they fail to develop a growth spurt at puberty. Severe cases may occasionally need treatment before puberty.

Last updated on 05-01-20

How might hypochondroplasia be treated?

Treatment depends on the symptoms seen in each child. In some cases, stature is almost normal when compared with the stature of other family members. When necessary, treatment may include:

  • Developmental intervention and special education for learning disabilities
  • A surgery called laminectomy or a procedure known as decompression which can take pressure off the spinal nerves or spinal canal in cases of spinal stenosis (narrowing of the spine)
  • Growth hormone therapy at around the time of puberty (this has shown mixed results)

Support groups can help individuals with hypochondroplasia and their family members adapt to short stature through peer support. They can also offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. Please see the contact information for support groups for hypochondroplasia.

Sometimes, children with hypochondroplasia are more severely affected, and have very similar features to those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. See also a description of the management of achondroplasia.

A consultation with a genetic doctor for genetic counseling is also recommended so that there can be discussion of issues such as risk of recurrence and parental concerns related to short stature.

Last updated on 05-01-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home
Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: The MAGIC Foundation 4200 Cantera Dr. #106
Warrenville, IL, 60555, United States
Phone: 630-836-8200 Toll Free: 800-362-4423 Fax : 630-836-8181 Email: contactus@magicfoundation.org Url: https://www.magicfoundation.org/
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: Human Growth Foundation 997 Glen Cove Avenue, Suite 5
Glen Head, NY, 11545, United States
Toll Free: 1-800-451-6434 Fax : 516-671-4055 Email: hgf1@hgfound.org Url: http://www.hgfound.org/
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

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