Stickler - Marshall Syndrome

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Stickler - Marshall Syndrome

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Stickler S. Type I - II - III

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Stickler Syndrome

A Selection of Internet Sites

[*] Outstanding
[P] For Professionals
[S] Support Group
[Ukrainian]

Stickler Syndrome
by Nathaniel H Robin, MD et al.
from GENE Clinics, last update: 8 June 2000.
Arthro - Ophthalmopathy, Arthroophthalmopathy, Hereditary Progressive Arthroophthalmopathy
Stickler syndrome is a connective tissue disorder which can include ocular findings of myopia, cataract, and retinal detachment; hearing loss which is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within families and between families. Interfamilial variability is in part explained by locus and allelic heterogeneity.
The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Mutations affecting one of three different genes (COL2A1, COL11A1, and COL11A2) have been associated with Stickler syndrome ... Mutations in other genes may also cause the disorder ...
Clinical Diagnosis
Ophthalmologic: ... Early-onset cataract, myopia greater than - 3 diopters, congenital vitreous anomaly, rhegmatogenous retinal detachment ...
Craniofacial: ... Bifid uvula, cleft hard palate, micrognathia, Robin sequence (micrognathia, cleft palate, glossoptosis).
Audiologic: Sensorineural hearing loss.
Joint: Hypermobility, mild spondyloepiphyseal dysplasia, precocious osteoarthritis.
Molecular Genetic Testing
Mutations in three genes, COL2A1, COL11A1, and COL11A2 ... Other, as yet unidentified, genes presumably account for Stickler syndrome as well ...
COL2A1 may be tested first in patients with ocular findings ... COL11A1 may be tested first in patients with typical ocular findings and significant hearing loss. COL11A2 may be tested for in patients with craniofacial and joint manifestations and hearing loss, but lacking ocular findings ...
Other phenotypes associated with mutations in COL11A1.
Marshall syndrome ( OMIM: 154780 ). Individuals with Marshall syndrome manifest ocular hypertelorism, hypoplasia of the maxilla and nasal bones, flat nasal bridge and small upturned nasal tip ... Ocular manifestations include high myopia, fluid vitreous humor, and early onset cataracts ...
Other phenotypes associated with mutations in COL11A2.
Autosomal recessive oto - spondylometa - epiphyseal dysplasia ... Characterized by flat facial profile, cleft palate, and severe hearing loss ...
Weissenbach-Zweymuller syndrome ( WZS ) ... characterized as "neonatal Stickler syndrome", but is actually a distinct entity ... characterized by midface hypoplasia ... dumbbell - shaped femora and humeri ...
Non - syndromic sensorineural hearing loss ...
Differential Diagnosis
Wagner syndrome ... characterized by the presence of ocular findings similar to those seen in Stickler and Marshall syndromes, but without the other clinical manifestations ...
Binder syndrome ( maxillonasal dysplasia ) ... characterized by midfacial hypoplasia, and absence of the anterior nasal spine on radiographs ...
Robin sequence ... Approximately half of all patients with Robin sequence have an underlying syndrome, of which Stickler syndrome is the most common ...
Mitral valve prolapse ( MVP ). A careful history should be taken so to elicit complaints suggestive of MVP, such as episodic tachycardia and chest pain ...

[*] [P] Stickler Syndrome, Type I
Alternative titles; symbols
STICKLER SYNDROME, VITREOUS TYPE 1
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE
from OMIM
Stickler et al. (1965), from a long experience at the Mayo Clinic with multiple members of a kindred, described a new dominant entity consisting of progressive myopia beginning in the first decade of life and resulting in retinal detachment and blindness … Abnormal epiphyseal development and slight hypermobility in some … Hearing deficit were also noted … Dish face … 50% of females and 43% of males had mitral valve prolapse … Variability in Stickler syndrome is mainly interfamilial ...

[*] [P] Stickler Syndrome, Type II
Alternative titles; symbols
STICKLER SYNDROME, NONOCULAR TYPE
from OMIM
Stickler syndrome caused by mutation in the COL11A2 gene … Characteristic facial features of Stickler syndrome in combination with hearing impairment. Cleft palate or mild arthropathy occurred in several patients, whereas ocular signs of the syndrome ( high myopia, vitreoretinal degeneration, and retinal detachment ) ...

Stickler syndrome, Type II
by NIDCR Dental
Gene Name: Collagen, type XI, alpha-2 chain
Gene Symbol: COL11A2
Chromosomal Location: 6p21.3
Molecule: ECM ( extracellular matrix molecule )
AD ( autosomal dominant )
Craniofacial Features: cleft palate, micrognathia, glossoptosis, severe myopia, flat facies, dental anomalies, deafness ...

[*] [P] Stickler Syndrome, Type III; STL3
Alternative titles; symbols
STICKLER SYNDROME, VITREOUS TYPE 2
BEADED VITREOUS TYPE
from OMIM
Stickler syndrome is caused by a mutation in the COL11A1 gene …
Richards et al. (1996) studied a 4 - generation family … All affected individuals had the characteristic ocular, auditory, and orofacial features of Stickler syndrome ...

[*] [P] Marshall Syndrome
from OMIM
The nosologic relationship of the Stickler ( 108300 ) and Marshall syndromes and the nosologic relationship of the Marshall and Wagner syndromes have been much mooted … Ayme and Preus (1984) … Suggested that the facies differ. Patients with the Marshall syndrome have a flat or retracted midface whereas those with the Stickler syndrome have a flat mala which is often erroneously described as a flat midface. Marshall syndrome patients have a thick calvaria, abnormal frontal sinuses, and intracranial calcifications. The eyeballs appear large, possibly because of a shallow orbit. Opitz and Lowry (1987) stated: 'We have the strong impression that the Marshall syndrome is different from the Stickler syndrome in spite of clinical overlap.' …
Marshall (1958) emphasized the ectodermal abnormalities, including defects in sweating and dental structures in the family he reported … Ectodermal dysplasia and ocular hypertelorism, features not shared by Stickler syndrome, Wagner syndrome (143200), or Weissenbacher - Zweymuller syndrome, all of which are conditions often confused with Marshall syndrome ...

[*] [S] About Stickler Syndrome
by SSSG
A genetic progressive condition, which can affect both sexes and is normally passed on from parent to child … Several genes which control and direct collagen synthesis …
COL2A1. This gene is responsible for Stickler syndrome in the majority (about 75%) … Has been classified as type 1 Stickler syndrome. Not all symptoms need be present from birth, some may manifest later …
COL11A1 again causes 'full' Stickler syndrome including joint, hearing, eye and cleft abnormalities, and has been classified as type 2 Stickler syndrome.
COL11A2 causes a 'Stickler-like' syndrome, which affects only the joints and hearing with no eye problems … Now been given the name Oto - spondylo - megaepiphyseal dysplasia ( OSMED ).

Stickler Syndrome
by Bill Houchin
from Stickler Involved People
Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue that connects bones, heart, eyes, and ears. This disorder is associated with problems of vision, hearing, bone and joint , facial and cleft palate, and heart ... Received its name from Dr. G. B. Stickler, who first studied and documented the syndrome ... Dr. Stickler first studied this syndrome at Mayo Clinic in 1965. His paper titled "Hereditary Progressive Arthro - Opthalmopathy" associated the severe sight deterioration with joint changes ... Common problems include near sightedness, astigmatism, and cataracts, which can be treated with glasses or surgery ... Retina deteriorating, eyes moving independent of each other, and glaucoma ... Can lead to blindness ... Hearing loss suffered by those ... Will affect either the middle or inner ear. Deafness can result in the extreme cases. Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed. These will tend to worsen with age. Several facial features are common with Sticklers syndrome. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities are possible, all in varying degrees. 30-40% of patients with Pierre Robin sequence have Stickler syndrome. Stickler is believed to be the most common syndrome in the United States and Europe, but one of the rarest to be diagnosed ...

Stickler Syndrome / Marshall Syndrome
by Boystown
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 is the most common problem with the eyes in Stickler Syndrome
Joint Change
Joint changes include hyperextensibility
Orofacial Structure
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 … Cleft palate is found less frequently in Marshall Syndrome than in Stickler Syndrome … Marshall Syndrome include a flat midface, the appearance of large eyes, short upturned nose, and a round face … Hearing loss
The hearing loss associated with Stickler Syndrome can be progressive and usually involves the high frequencies
Stickler Syndrome and Marshall Syndrome have an autosomal dominant pattern of inheritance ...

Dave Hawley's Stickler Syndrome Page
by Dave Hawley.
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 … Extreme myopia, hyperextensible joints and arthritis ...

Stickler Syndrome Support Group
by SSSG

Stickler Involved People
Offer:
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Newsletter
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Stickler Syndrome
A fact sheet for specialists in Ukrainian
Synonyms ... Minimal diagnostic criteria ... Etiology ... Clinical features and symptoms of each type of Stickler syndrome ...

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19/September/2003 S.L.