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Stickler Syndrome and its associated deficits

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Emily Bennett

on 4 August 2015

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Transcript of Stickler Syndrome and its associated deficits

What is Stickler
Syndrome?
a genetic disorder that causes serious vision, hearing, and joint problems

the signs and symptoms vary widely among affected individuals

typically diagnosed during infancy or childhood

affects approximately 1 in 7,500- 9,000 newborns
Types of Stickler SyndromE
Type I
most common
present with all the aforementioned features
has the highest risk of retinal detachment
Type II
eye abnormalities
hearing loss
Type III
no eye abnormalities
hearing loss
Related syndromes: pierre robin sequence
a particular group of physical features, including:
cleft palate
glossoptosis
micrognathia

this combination of features can lead to feeding problems and difficulty breathing

isolated Pierre Robin sequence is not usually inherited



Related syndromes: Marshall syndrome
characterized by...
distinctive facial appearance
eye abnormalities
hearing loss
early-onset arthritis
short stature

controversial whether Marshall syndrome represents a variant of Stickler syndrome or a separate disorder
History of Stickler Syndrome
Gunnar B. Stickler first discovered the disease in 1965
discovered syndrome at the Mayo Clinic
originally found progressive myopia beginning in the first decade of life and resulting in retinal detachment and blindness

later research by Stickler in the late 1960's indicated that the phenotype also included joint abnormalities and vision, and hearing deficits

Opitz et al. (1972) noted that affected individuals may present with Pierre Robin sequence

Features of Stickler Syndrome
Facial Features:
flat midface with anteverted nares and a depressed nasal bridge
small jaw
small tongue
cleft palate

Ears:
typically have sensorineural hearing loss
may have conductive hearing loss
Stickler Syndrome and its associated deficits
Types of Stickler SyndromE
Type IV and V
rare; have only been diagnosed in several individuals
inherited in an autosomal recessive pattern from mutations in the COL9A1 or COL9A2 gene
http://www.omim.org/clinicalSynopsis/108300

http://ghr.nlm.nih.gov/condition/stickler-syndrome

http://www.mayoclinic.org/diseases-conditions/stickler-syndrome/basics/symptoms/con-20027976

http://www.medschool.lsuhsc.edu/genetics/stickler_syndrome.aspx

http://www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%20english%20physbrochure%20updated.pdf



Features of Stickler
Syndrome, cont'd.
Eyes:
myopia
retinal detachment
blindness
occasional cataracts
glaucoma

Skeletal Features:
scoliosis
kyphosis
inflamed joints/ joint diseases
abnormally long hands and fingers (arachnodactyly)

Heart Conditions:
mitral valve prolapse
Examples of Stickler Syndrome
Diagnosis and Treatment
Diagnosis:
diagnosed based on a child's medical history and a physical exam
genetic testing
x-rays can reveal abnormalities in the joints and spine
eye exams to check for abnormalities, cataracts or glaucoma
hearing evaluations

Treatment:
analgesics for joint discomfort
pharmaceuticals to treat glaucoma
tracheostomy
jaw surgery
cleft palate surgery
speech pathology services to treat speech/ articulation, feeding, and language disorders
Resources for
further information
Information about the Disorder:

http://ghr.nlm.nih.gov/condition/stickler-syndrome
http://www.mayoclinic.org/diseases-conditions/stickler-syndrome/basics/symptoms/con-20027976
http://www.medschool.lsuhsc.edu/genetics/stickler_syndrome.aspx
http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler/
http://www.marfan.org/stickler-syndrome

Information for Parents:

http://www.clapa.com/parents/article/330/

Support Groups:

http://www.faces-cranio.org/Disord/Stickler.htm
http://www.sticklers.org/sip2/



Works Cited
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