More than 24,000 children are born with hearing loss in the United States each year. Boys Town National Research Hospital is a national leader in the diagnosis and treatment of children with moderate to profound hearing loss.

Information on Hearing Loss - Stickler Syndrome/Marshall Syndrome

Stickler Syndrome and Marshall Syndrome are genetic disorders of the connective tissue (a substance that holds other tissues together) which can cause hearing loss. The three most common areas to be affected are the eyes, joints and orofacial structures (mouth and face). Marshall Syndrome and Stickler Syndrome closely resemble each other; in fact they are so similar, some say they are the same. For the purpose of this article the differences and similarities will be identified with no attempt to resolve the issue of whether they result from a common gene.

Eye Findings

Myopia (impaired vision for things that are at a distance) is the most common problem with the eyes in Stickler Syndrome. Extreme myopia may lead to severe eye problems such as detached retina and cataracts. Myopia is the most common eye problem in Marshall Syndrome also, but cataracts occur more frequently and detached retina less frequently than in Stickler Syndrome.

Joint Change

The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler Syndrome usually have very hyperextensible joints. As an affected child gets older, they may experience pain and stiffness from overuse of a joint. Osteoarthritis of the large joints often develops during the third or fourth decade. The joint changes in Marshall Syndrome are of the same type but to a lesser degree. There also may be changes in the bones that show up on X-ray but generally are not a problem.

Orofacial Structure

The most severe problem associated with Stickler Syndrome is Pierre-Robin sequence. This refers to a cleft palate (hole in the roof of the mouth) resulting from a very small lower jaw. During early fetal life, the roof of the mouth is normally open and the sides of the palate have to come together to close. If the jaw is too small, there is not enough room for the tongue which is then pushed up and gets in the way of the closing palate. Sometimes the chin is so small the baby has problems with eating and breathing if the tongue blocks the back of the throat. Cleft palate is found less frequently in Marshall Syndrome than in Stickler Syndrome but still more frequently than in the general population.

The facial features of Marshall Syndrome include a flat midface, the appearance of large eyes, short upturned nose, and a round face. The facial features of Stickler Syndrome are less prominent but include a rather long flat face, and depressed nasal bridge.

Hearing Loss

The hearing loss associated with Stickler Syndrome can be progressive and usually involves the high frequencies. Sensorineural hearing loss has been reported in as many as 100% and as low as 20% of affected individuals. A conductive loss due to otitis can magnify an existing sensorineural loss and is a frequent problem for children with Stickler or Marshall Syndrome.

Genetics

Stickler Syndrome and Marshall Syndrome have an autosomal dominant pattern of inheritance. This means that someone with the gene has a 50% chance of passing on the gene with each pregnancy. However, there is a great deal of variation within and among families with regard to gene expression. Some may be more severely affected and others may be very mildly affected. Often these syndromes are not recognized in a family until a baby is born with Pierre Robin Sequence or some members have detached retinas or cataracts at a young age.

There are no tests for Stickler Syndrome or Marshall Syndrome, yet. Some families with Stickler Syndrome have been shown to have mutations in the Type II collagen gene on chromosome 1. However, other families do not show the linkage to the collagen gene. More study is necessary, but soon there will be an answer to the question of whether Stickler Syndrome and Marshall Syndrome are caused by the same gene.

Medical Treatment

There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an eye doctor who has been informed of the diagnosis of Stickler or Marshall Syndrome is important for all affected individuals. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification. Support for the joints is especially important during sports, and some recommend that contact sports should be avoided by those who have very loose joints.

References

Ayme, S. & Preus, M. 1984. The Marshall and Stickler syndromes: objective rejection of lumping. J M Genet, 21: 34-8.

Fryer, A.E. et al. 1990. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet, 2: 91-3.

Jones, K.L. 1988 Smith's Recognizable Patterns of Human Malformation. Philadelphia; Saunders.

Temple , I.K. 1989. Stickler's syndrome. J Med Genet, 26: 119126.

Date Originally Created: Winter of 1990

The information presented here first appeared in publications of the Boys Town National Research Register for Hereditary Hearing Loss, the National Institute on Deafness and Other Communication Disorders (NIDCD), Hereditary Hearing Impairment Resource Registry (HHIRR), or the Boys Town Research Registry for Hereditary Hearing Loss.

The Boys Town Research Registry for Hereditary Hearing Loss

The Boys Town Research Registry for Hereditary Hearing Loss (Registry) is designed to foster a partnership between families, clinicians and researchers in the area of hereditary hearing loss/deafness through three primary functions. First, the Registry disseminates information to professionals and families about clinical and research issues related to hereditary deafness/hearing loss. Second, the Registry collects information from individuals interested in supporting and participating in research projects. This information is used to support the third function of the Registry - matching families with collaborating research projects.

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