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Saturday, Jul 05, 2008 | 01:59 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Krause Kivlin Syndrome
Peters plus syndrome, Peters anomaly with short limb dwarfism
Monday, 06 September 2004
Last Updated Monday, 06 September 2004
What
Krause Kivlin syndrome is a hereditary condition that describes a group of symptoms that includes abnormal formation of the front part of the eye which causes vision problems, characteristic facial appearance and short stature. It is believed that this syndrome is caused by an error in development that takes place very early on in pregnancy.Who
This condition affects males and females in equal numbers and seems to occur in all ethnic groups. This syndrome is very rare, in fact, there are only slightly more than 50 cases reported in the medical literature.Signs and Symptoms
Common signs and symptoms in children affected with this disorder include;
- Corneal opacity: the part of the eye that is normally clear can be cloudy
- Iridolenticulocorneal adhesions: abnormal connections between different parts of the eye
- Absence of Descemet’s membrane: the interior layer of the cornea can be absent
- Cataracts
- Typical facial appearance: round face with small lower jaw (micrognathia), prominent forehead, widely set eyes (hypertelorism), short columella (the fleshy part at the end of the nose between the nostrils), thin upper lip
- Poor growth: both during the pregnancy and afterward
- Short arms and legs and short broad hands
- Malformed and low set ears • Learning problems
Possible Causes
Though the gene or genes responsible for Krause Kivlin syndrome have not been identified yet, this condition seems to be inherited in autosomal recessive manner. This means that the affected child inherited two altered copies of the gene causing this syndrome, one from each parent. Individuals with one altered copy and one normal copy of the gene do not have the disease, but are called carriers. While a carrier does not have the disease there is a risk of the changed gene being passed on to their children. It is thought that genetic changes in genes named homeobox genes may play a role in this syndrome. Homeobox genes play an important role in control of embryonic development.Diagnosis
Diagnosis of this condition is based on finding the above described signs and symptoms on physical examination. Imaging studies, X-rays, CTs or MRIs, may be done to evaluate for other signs that cannot be found on physical examination. A thorough evaluation of other systems, especially neurological, cardiovascular and urogenital systems, is also often done. Referral to a pediatric ophthalmologist is crucial for expert evaluation and management.Treatment
Because there is no cure for Krause Kivlin syndrome, treatment is focused on managing the signs and symptoms found in an affected individual. For instance, eye surgery and medications are available to help with the cataracts and glaucoma and further corrective surgery may be done to help improve any vision acuity problems. Treatment with growth hormone may be helpful for children with short stature. Special educational services offered through schools address learning difficulties while physical and occupational therapy can be helpful in addressing issues related to activities of daily living. Special community resources such as Blind Children’s Centers and the Braille Institutes can assist parents and children with special servicesPrognosis
Children with this disorder are expected to have a normal life span. While children with Krauss Kivlin syndrome may need several surgeries early on in life and need some assistance with learning, they can grow up to lead very healthy and happy lives.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Peters Anomaly support group
Site has several useful links, as well as a forum for parents to communicate with each other.
Little People of America
Organization provides information and support to people of short stature and their families.
Centralized dwarfism resources
A list of links to organizations around the world.
Anatomy of the Eye
Very comprehensive explanations about the eye written in parent-friendly language. Unfortunately, no pictures.
Anatomy, Physiology and Pathology of the Human Eye
The site provides extensive information about those topics.
National Eye Institute: Photos, Images, Videos
Lots of diagrams, pictures and videos about the normal eye.
Syndrome de Krause Kivlin
Comprehensive information in French.