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Stickler - Marshall Syndrome

International Birth Defects Information Systems

Stickler - Marshall Syndrome

Topics: | Stickler - Marshall Syndrome | Stickler S. Type I - II - III |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish | Ukrainian |

Stickler Syndrome, Type I
Victor A. McKusick, OMIM, Johns Hopkins University, July 6, 2007
Visitor Comments [for Professionals mainly]
Alternative titles; symbols
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 ...

Stickler Syndrome, Type II
Victor A. McKusick, OMIM, Johns Hopkins University, June 16, 2000
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Alternative titles; symbols
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 III; STL3
Victor A. McKusick, OMIM, Johns Hopkins University, April 13, 2007
Visitor Comments [for Professionals mainly]
Alternative titles; symbols
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 ...

Marshall Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, July 6, 2007
Visitor Comments [for Professionals mainly]
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 ...

About Stickler Syndrome
SSSG, 2007
Visitor Comments [Support Groups]
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 Support Group
SSSG, 2007
Visitor Comments [Support Groups]

Stickler Involved People
Visitor Comments [Support Groups]
Ways to cope
Listeners ...

Stickler Syndrome
Bill Houchin, Stickler Involved People, 2007
Visitor Comments [Support Groups]
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
Nathaniel H Robin, MD et al., GENE Clinics, August 2, 2005
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 ...

Dave Hawley's Stickler Syndrome Page
Dave Hawley, January 24, 1999
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 ...

Síndrome de Stickler: desprendimiento de retina, sordera neurosensorial y paladar hendido. Reporte de un caso.
Dr. Jorge Arturo Aviña Fierro and Dr. Daniel Alejandro Hernández Aviña, Rev.peru.pediatr. 60 (2) 2007
Visitor Comments [Spanish]
El síndrome de Stickler es una rara enfermedad autosómica dominante causada por defecto en los genes del colágeno lo
que afecta el tejido conectivo al originar una alteración en la estructura de la colágena, produciendo signos característicos
oculares, auditivos, articulares y óseos. Reportamos el caso de una adolescente con miopía severa, cataratas juveniles,
desprendimiento de retina, sordera neurosensorial, paladar hendido y perfil facial plano por subdesarrollo de estructura
facial media; además, con displasia espóndilo-epifisiaria moderada y artritis precoz. Paciente con una evolución clínica
avanzada y diagnóstico tardío ... Palabras clave: Síndrome de Stickler; desprendimiento de retina, colagenosis ...

Cirugía ortognática y rinoplastia en el síndrome de Binder Orthognathic surgery and rhinoplasty in Binder syndrome
M. Tito and C. Piero, Rev Esp Cirug Oral y Maxilofac vol.29 no.2  Madrid Mar.-Apr. 2007
Visitor Comments [Spanish]
El síndrome de Binder es una patología caracterizada por hipoplasia nariz-maxilar, ángulo naso-frontal plano, senos frontales hipoplasicos, ausencia de la espina nasal anterior, columela corta y ángulo nasolabial agudo. El tratamiento del los pacientes con síndrome de Binder puede ser ortodóntico o quirúrgico según la gravedad de la malformación. En este trabajo hemos realizado una revision bibliográfica sobre la etiología, el diagnóstico diferential y el tratamiento de la sindrome de Binder y presentamos un caso clínico de un paciente binderiano sometido a intervención de cirugía ortognática y rinoplastia con injerto de cartílago costal para recostruir el dorso y la punta nasal.

Stickler Syndrome
I.B.I.S. Birth Defects, September 13, 2003
Visitor Comments
A fact sheet for specialists in Ukrainian
Synonyms ... Minimal diagnostic criteria ... Etiology ... Clinical features and symptoms of each type of Stickler syndrome ...


Last Updated: 2008/2/20


American Medical Association