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 It has not been thoroughly edited for two years, so it and the links in it are somewhat out-of-date.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:

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

Support groups are located in the US and the 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:

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.