Find information on thousands of medical conditions and prescription drugs.

Stickler syndrome

Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
Sabinas brittle hair...
Saccharopinuria
Sacral agenesis
Saethre-Chotzen syndrome
Salla disease
Salmonellosis
Sandhoff disease
Sanfilippo syndrome
Sarcoidosis
Say Meyer syndrome
Scabies
Scabiophobia
Scarlet fever
Schamberg disease...
Schistosomiasis
Schizencephaly
Schizophrenia
Schmitt Gillenwater Kelly...
Sciatica
Scimitar syndrome
Sciophobia
Scleroderma
Scrapie
Scurvy
Selachophobia
Selective mutism
Seminoma
Sensorineural hearing loss
Seplophobia
Sepsis
Septo-optic dysplasia
Serum sickness
Severe acute respiratory...
Severe combined...
Sezary syndrome
Sheehan syndrome
Shigellosis
Shingles
Shock
Short bowel syndrome
Short QT syndrome
Shprintzen syndrome
Shulman-Upshaw syndrome
Shwachman syndrome
Shwachman-Diamond syndrome
Shy-Drager syndrome
Sialidosis
Sickle-cell disease
Sickle-cell disease
Sickle-cell disease
Siderosis
Silicosis
Silver-Russell dwarfism
Sipple syndrome
Sirenomelia
Sjogren's syndrome
Sly syndrome
Smallpox
Smith-Magenis Syndrome
Sociophobia
Soft tissue sarcoma
Somniphobia
Sotos syndrome
Spasmodic dysphonia
Spasmodic torticollis
Spherocytosis
Sphingolipidosis
Spinal cord injury
Spinal muscular atrophy
Spinal shock
Spinal stenosis
Spinocerebellar ataxia
Splenic-flexure syndrome
Splenomegaly
Spondylitis
Spondyloepiphyseal...
Spondylometaphyseal...
Sporotrichosis
Squamous cell carcinoma
St. Anthony's fire
Stein-Leventhal syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stiff man syndrome
Still's disease
Stomach cancer
Stomatitis
Strabismus
Strep throat
Strongyloidiasis
Strumpell-lorrain disease
Sturge-Weber syndrome
Subacute sclerosing...
Sudden infant death syndrome
Sugarman syndrome
Sweet syndrome
Swimmer's ear
Swyer syndrome
Sydenham's chorea
Syncope
Syndactyly
Syndrome X
Synovial osteochondromatosis
Synovial sarcoma
Synovitis
Syphilis
Syringomas
Syringomyelia
Systemic carnitine...
Systemic lupus erythematosus
Systemic mastocytosis
Systemic sclerosis
T
U
V
W
X
Y
Z
Medicines

Types

Genetic changes are related to the following types of Stickler syndrome:

  • Stickler syndrome, COL11A1
  • Stickler syndrome, COL11A2
  • Stickler syndrome, COL2A1

Stickler syndrome is a subtype of collagenopathy, types II and XI.

Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes.

Causes

The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning person with the syndrome has a 50% chance of passing it on to each child. There are three variants of Stickler syndrome, each associates with a collagen biosynthesis gene.

Symptoms

Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have almost no signs and symptoms; others have all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to frequent ear infections and swallowing difficulties.

Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (glaucoma) and tearing of the lining of the eye (retinal detachment). The jelly-like substance within the eye (the vitreous) has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. The type of Stickler syndrome associated with the COL11A2 gene does not affect the eye.

Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive. The joints of affected children and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person gets older. Learning difficulties can also occur because of hearing and sight impairments.

Genetics

Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome. These genes are involved in the production of type II and type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissue (the tissue that supports the body's joints and organs). Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen. Defective collagen molecules or reduced amounts of collagen affect the development of bones and other connective tissues, leading to the characteristic features of Stickler syndrome.

Read more at Wikipedia.org


[List your site here Free!]



Chiropractic Adjustments - Relative Contraindication in a 14-Year-Old Stickler Syndrome Patient Experiencing Whiplash
Abstract Objective: A single case study involving a 14-year-old male, in which no adverse effects to manual treatment were documented. A second objective ...
Evaluation and management of suspected retinal detachment
Retinal detachment often is a preventable cause of vision loss. There are three types of retinal detachments: exudative, tractional, and rhegmatogenous.
Rare Breed - profiles of three defense lawyers who work death penalty cases, Stephen Bright, Bryan Stevenson, and John Holderidge
Death penalty lawyers defend rights of politically invisible Bryan Stevenson graduated from Harvard University magna cum laude with a bachelor's in ...
PTs in the study of genetic disorders
In addition to their roles as health care providers and advocates for patients with genetic disorders, Prs have a vital role to play in the genetics research ...
Diagnosis and treatment of cutaneous vascular lesions
Cutaneous vascular lesions are the most common pediatric birthmarks. Flat vascular malformations tend to persist, but raised vascular lesions, known as ...
10th Philip Zorab Symposium--the aetiology of idiopathic scoliosis
The abstracts were prepared by Jeremy Fairbank. Correspondence should be addressed to him at Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK, or by email ...
Scoliosis
Definition Scoliosis is a side-to-side (lateral) curvature of the spine of 10 degrees or greater. Description When viewed from the rear, ...
A fresh (smiley) face
A fresh (smiley) face With all the Big Gig has to offer, why not tune in to something different? Friday, June 25, 2004 Stuck in a Smiley Face ...

Home Contact Resources Exchange Links ebay