Dave Hawley's Stickler Syndrome Page

This is a page devoted to indexing on-line information related to Stickler's Syndrome. It has not been thoroughly edited for two years, so it and the links in it are somewhat out-of-date. For the latest information, please see the SIP (US) website at http://www.sticklers.org/ or the Stickler Syndrome Support Group (UK) website at http://www.netcomuk.co.uk/~gfmsssg/.

Stickler's Syndrome defines a set of closely-related genetic connective tissue disorders caused by a range of collagen gene mutations. It is an autosomal dominant trait, meaning that it is independent of sex and is expressed in a person with a single copy of the diseased gene. It thus has a 50% chance of being passed from parent to each child.

Its expression can vary greatly within and among families, and is often recognized after a child is born with some degree of cleft palate or develops cataracts and/or retinal detachments at an early age. Its other expressions can include extreme myopia, hyperextensibile joints and arthritis, a somewhat flat face and small jaw and high frequency hearing loss. There are a wide range of collagen disorders with overlapping symptoms, so a genetic evaluation is required in order to diagnose Stickler's syndrome. Early and regular eye exams by an informed ophthamologist can make effective treatment of myopia, cataracts, and detached retinas possible. Craniofacial, skeletal, auditory, and cardiac evaluations may be considered. Contact sports should probably be avoided.

I'm now looking for references to information on standard treatments and therapies. Please send relevant URLs to one of the addresses below. I'd like to sincerely thank those who have sent me letters already; it's good to know a site like this can make a difference to people all over the world.

A list of WWW sites with general references to Stickler's and other disorders:

The Boy's Town National Research Hospital has a National Institute on Deafness and Other Communication Disorders - Hereditary Hearing Impairment Resource Registry which includes pages on Stickler/Marshall Syndromes and Current Progress in Finding Genes Involved in Hearing Impairment.
The University of Iowa Ophthalmology lab has a detailed tour of their program, including a page on Hereditary Retinal Disorders.
The National Organization of Rare Disorders allows you to order info on Stickler's Syndrome.

A list of WWW sites with general information relevant to Stickler's:

Family Village, a global community of disability-related resources, includes card catalog references to Stickler Syndrome and Craniofacial Disorders.
Med Help International (a subscription based source of medical information to patients and families) supports the Alliance of Genetic Support Groups, which includes a Directory of National Genetic Voluntary Organizations (list of support groups).
The Genetics Education Center at the University of Kansas Medical Center has a list of support groups, including Stickler Syndrome.
The University of Nebraska Medical Center hosts the Meyer Rehabilitation Institute's Great Plains Genetic Services Network bulletin board, including a list of Clinical Genetic Conditions with Hearing Loss.
Paul Murphy has created a web page for Rare Genetic Diseases in Children.
The Scottish Sensory Centre has a Visual Impairment Service with U.K. Stickler Syndrome Support Group information.
The Ability disability web site has pointers to other syndromes information.
The Library and Medical Information Center at the Karolinska Institute in Sweden has an index of MeSH diseases, including a section on skin and connective tissue diseases.
A general tutorial on Genetic Diseases (Aug 1994) by Ed Friedlander, M.D. in Kansas City, MO, provides an excellent, detailed introduction to the subject.
The Royal National Institute for the Blind, U.K., has a nice introduction to Understanding Eye Conditions. Their New Beacon monthly magazine has a review of "Stickler - the elusive syndrome" (reprinted below) in the April 1996 issue.
The Rand Eye Institute has a good discussion of Laser Surgery for Retinal Detachment by William J. Rand.
The American Academy of Ophthalmology has a list of Cataract FAQs, including a specific question from me in their Ask the Doctor Cataract Q&A Archive.
WideSmiles provides support for parents of cleft-affected children with a great web site that includes answers to questions and on-line discussion lists. Two of the best files are Cleft Talk in the Home and Talk to Me - Talk to Your Kids.
The Arthritis Foundation and the American Juvenile Arthritis Organization are good sources of information.
The University of Texas Health Science Center at San Antonio hosts the Chromosome 18 Registry and Research Society including a discussion forum which occasionally touches on Pierre Robin and Stickler syndromes.

Support groups are located in the US and the UK:

Stickler Involved People (SIP)
Bill and Pat Houchin
15 Angelina Dr.
Augusta, KS 67010 (USA)
Tel: 1+316-775-2993
email: sip@sticklers.org
The Stickler Syndrome Support Group
Wendy Hughes
27 Braycroft Avenue
Walton-on-Thames
Surrey, KT12 2AZ (UK)
Tel: +44-1932-267635
email: wlhsssg@netcomuk.co.uk

The Stickler Syndrome Support Group published a book by Wendy Hughes titled Stickler - the Elusive Syndrome in October 1995.

The following review was written by Veronica Bevan of the RNIB Ophthalmic Information Service. It appeared in the April 1996 issue of New Beacon, the monthly magazine published by the Royal National Institute for the Blind.

: In the preface to this book by Wendy Hughes, who has Stickler's Syndrome, Mr. Robert Cooling, Medical Director and Ophthalmologist at Moorfields Eye Hospital, says: "The ability to convey the nuts and bolts of a complicated medical condition even for those of us who are medically qualified is an exacting task and is the product of a rare talent which is there to be seen throughout this book." I found the book both readable and informative, and since this syndrome is thought to be under-diagnosed, a greater awareness of its signs and symptoms might be useful to lay and medical readers. The elusive syndrome covers a wide range of subjects which include caring for children, failing sight and joint pain. There are sections on genetics, eyesight, symptoms, and improved quality of life. The book seeks to inspire not only people coping with Stickler's Syndrome, but also those with other chronic disorders.

There is a new mailing list for Stickler Syndrome. To subscribe, send an email to majordomo@sticklers.org with the line "subscribe sip" (no quotes) as the only text in the body of the message.

If you want to use some of the major search engines to locate the latest information, here's several sources:

References

A large bibliography of Stickler references is on another page, stickref.html. Following is a list of WWW sites referencing specific Stickler's abstracts, papers, or research efforts:

The National Center for Biotechnology Information has two searchable databases:

The Online Mendelian Inheritance in Man database allows you to search for Stickler entries.
The WWW Entrez browser can provide abstracts and reports of Stickler articles.

HealthGate allows free MEDLINE searches (with certain restrictions). Full search capability is available with a subscription.
The American Medical Association Archives of Ophthalmology has a November 1995 abstract on Stickler Syndrome, N. Nina Ahmad, et al.
The American Association for Pediatric Ophthalmology and Strabismus had a poster session at their conference in 1995 on Long Term Follow-up of Ocular Findings in Children with Stickler's Syndrome, Gary D. Markowitz, et al.
The Association for Research in Otolaryngology had a 1995 Midwinter Meeting which included a Workshop on Genes and Hearing Loss. Stickler syndrome was mentioned in Abstract #194 "Genetic and molecular studies of autosomal dominant forms of hearing loss," S. D. Smith, Boys Town National Research Hospital, Omaha, NE.
Cell online's Feb. 1995 issue included an article on Autosomal Dominant and Recessive Osteochondrodysplasias Associated with the COL11A2 Locus, Vikkula et al..
Carl Zeiss, Inc.'s Surgical Products Division, Ophthalmology, hosts a series of AAO MediLive Theatre Presentations, including one on retinal surgery techniques by Kirk H. Packo, MD.
The University of Iowa Ophthalmology Dept. has researchers studying Stickler syndrome, including Dr. Stone and Dr. Weingeist.
Wills Eye Hospital in Philadelphia has a What's New page describing an NEI grant for Stickler's syndrome research for Dr. Ahmad.
Jefferson Medical Collage at Thomas Jefferson University in Philadelphia has researchers studying the Molecular Biology of Heritable Osteoarthritis, including Dr. Jimenez in the Division of Rheumatology.
The University of Oulu (Finland) Collagen Research Unit includes two articles on Stickler syndrome.
The Emory University Eye Center announced the creation of a pediatric eye center in the Emory Report Feb. 1996 Research Briefs.
The Harvard Medical School Biological and Biomedical Sciences program has Dr. Olsen of the Dept. of Cell Biology doing some connective tissue research.
The Genethon Human Genome Research Centre includes a list of Results obtained in genetics with the help of AFM and/or Genethon [French].
The Yale Center for Medical Informatics is part of the Chromosome 12 Genome Center and includes a report of the third international workshop on human chromosome mapping and a comparative mapping of human chromosome 12.
The UCSD Biochemical Genetics homepage includes a World-Wide Biochemical Genetics Referral Test List, including a List of Biochemical Genetics Tests by Disease, and where they can be performed.
The University of Texas Medical Branch at Galveston Department of Otolaryngology has a Grand Rounds report on The Syndromic Child.
Western Oregon State College Teaching Research Division hosts the National Information Clearinghouse on Children who are Deaf-Blind, including a Usher Syndrome Medical Bibliography (some references are relevant to Stickler syndrome).

As there are a wide range of collagen-related disorders, here is a brief description of Stickler and those syndromes most often lumped with it. Be aware that there are versions of the Stickler phenotype which have not been genetically identified. Note that the literature is confusing; please follow the links below and draw your own conclusions.

Stickler Syndrome, Type I: STL1, also known as Hereditary Progressive Arthroophthalmopathy (AOM). Caused by a mutation in the COL2A1 gene on chromosome 12. The OMIM has a entry on AOM (STL1) and a clinical synopsis. STL1 displays craniofacial, eye, joint, and hearing problems in varying degrees.
Stickler Syndrome, Type II: (STL 2) Caused by a mutation in the COL11A2 gene on chromosome 6. The OMIM has a entry on STL2 and a clinical synopsis. STL2 does not have the eye problems of STL1.
Weissenbacher-Zweymuller Syndrome: WZS, originally known as Pierre Robin Syndrome with Fetal Chondrodysplasia. The OMIM has a entry on WZS and a clinical synopsis. WZS has more severe skeletal effects and delayed neonatal development, but may lack the eye and joint problems of STL1. It is recessive, not dominant.
Wagner Syndrome: Also known as Hyaloideoretinal Degeneration of Wagner. The OMIM has a entry on Wagner and a clinical synopsis. There may be more than one type of Wagner syndrome, so differentiation from the two types of Stickler is difficult. It may be that Wagner has skeletal effects, but not the joint and hearing problems of STL1.
Marshall Syndrome: The OMIM has a entry on Marshall and a clinical synopsis. Marshall may have more severe craniofacial characteristics, but not the joint problems of STL1.

Glossary of Terms

This list will help you understand what is being discussed in the references, and provide a brief introduction to genetic terminology. Most definitions came from the Random House Dictionary of the English Language, second edition, unabridged.

Greek to English

arthro: joint
chondro: cartilage
glosso: tongue
gnatho: jaw
myelo: marrow or spinal cord
ophthalmo: eye
osteo: bone
oto: ear
patho: disease
spondylo: vertebra

Genetics to English

allele: any of several forms of a gene that are responsible for hereditary variation.
amino acid: any of a class of organic compounds, including the building blocks from which proteins are constructed.
aplasia: defective development or congential absence of a limb, organ, or other body part.
autosome: any chromosome other than a sex chromosome.
chromosome: any of several threadlike bodies that carry the genes in linear order - the human species has 23 pairs, designated 1 to 22, in order of descending size, and X and Y for the female and male sex chromosomes, respectively.
codon: a triplet of adjacent nucleotides in the RNA chain that codes for a specific amino acid in the synthesis of a protein molecule.
collagen: any of a class of extracellular proteins, especially abundant in the skin, bone, cartilage, tendon, and teeth, forming strong insoluable fibers and serving as connective tissue between cells.
congenital: of or pertaining to a condition present at birth.
dominant: the one of a pair of alleles that masks the effects of the other when both are present in the same cell or organism.
dysplasia: abnormal growth or development of cells, tissue, bone, or an organ.
genotype: the genetic makeup of an organism.
hereditary: passing naturally from parent to offspring through the genes.
heterogeneity: composition from dissimilar parts, disparateness.
hypoplasia: abnormal deficiency of cells or structural elements.
mutation: a sudden heritable change in a gene or chromosome.
neonatal: of or pertaining to newborn children.
nucleotide: any of a group of nolecules that, when linked together, form the building blocks of DNA or RNA: composed of a phosphate group, the bases adenine, cytosine, guanosine, and thymine, and a pentose sugar, in RNA the thymine base being replaced by uracil.
phenotype: the observable constitution or appearance of an organism.
polypeptide: a chain of amino acids linked together.
protein: any of numerous, highly varied organic molecules constituting a large portion of the mass of every life form, composed of amino acids linked in a genetically controlled linear sequence into one or more long polypeptide chains, the final shape and other properties of each protein being determined by the side chains of the amino acids and their chemical attachments: proteins include such specialized forms as collagen for supportive tissue, hemoglobin for transport, antibodies for immune defense and enzymes for metabolism.
recessive: the one of a pair of alternate alleles whose effect is masked by the activity of the second when both are present in the same cell or organism.

This page is http://members.aol.com/dhawley/stickler.html, last updated by Dave Hawley on 24-Jan-1999. My home page is http://members.aol.com/dhawley/.

Send email to DHawley@aol.com.