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Title: Stickler


1
Stickler Syndrome A Physicians Overview
2
What do you hear?
  • It could just be
  • a Zebra and
  • not a Horse!

3
Stickler Syndrome The Basics
  • Progressive, genetic connective tissue disorder
  • Autosomal dominant
  • High degree of penetrance
  • Wide range of severity/ expression
  • Affects both sexes/ all ethnicities
  • Believed to be the most common connective tissue
    disorder

4
Stickler SyndromeHistory
  • First defined by Dr. Gunnar B. Stickler, a
    pediatrician at Mayo Clinic, in 1965
  • Based on evaluation of 12 year old boy with
    vision, joint problems had blind mother other
    family members had been seen by Dr. Charles Mayo
    dating back to 1887
  • Multi-disciplinary team studied five generations
    of boys family
  • Originally published under name Hereditary
    Progressive Arthro-Ophthalmopathy

5
Stats and Specs
  • Mutations found in three collagen genes to date
  • Prevalence between 1 in 7500 and 1 in 3300
  • Frequently misdiagnosed or undiagnosed
  • Average age of children diagnosed - 4.2 years
  • Average age of adults diagnosed - 32 years
  • One study found 53 error rate in original
    diagnosis of patients later determined to have
    Stickler syndrome
  • 10 of children born with cleft palate and 12 of
    children diagnosed at birth with Pierre-Robin
    sequence were later found to have Stickler
    syndrome
  • Problems with vision, hearing, bones/ joints and
    oro-facial features

6
Stickler Faces

7
Clinical Findings Ocular
  • Myopia (mild to severe)
  • Present at birth
  • Minimal progression
  • Retinal Detachment/Degeneration
  • Spontaneous
  • Giant tears/ holes
  • Bilateral
  • Patient typically under age 30
  • Cataracts
  • Pre-senile
  • Wedge or comma shaped
  • Vitreous anomalies/degeneration
  • Glaucoma
  • Astigmatism/ Strabismus

8
Clinical Findings - Auditory
  • Sensorineural hearing loss
  • Conductive hearing loss
  • Otitis media
  • Hypermobile tympanic membranes
  • Ears tend to be low set

9
Clinical Findings Musculo-skeletal
  • Early onset osteoarthritis
  • Usually most severe in hips and knees
  • Abnormality to ends of long bones
  • Spinal abnormalities
  • Scoliosis
  • Kyphosis (Scheuermann-like)
  • Schmorls nodes
  • Platyspondylia
  • Endplate abnormalities
  • Spondylolisthesis
  • Femoral head flattening/ failure
  • Double jointedness to point of dislocation
  • Genu valgum (knock-kneed)
  • Pronated feet

10
Musculo-skeletal (cont)
  • Coxa vara( hip joint deformity)
  • Hypotonia
  • Posterior slip of capital epiphysis
    (Leggs-Perthes like disease)
  • Flattening of epiphyses
  • Protrusio acetabuli
  • Slender extremities, long fingers, normal height
  • Intra-articular loose bodies
  • Joint pain/ stiffness
  • Arachnodactyly
  • and more

11
Jays Knock Knees

12
Jay pre/post knee surgery

13
Graham pre-hip surgery
14
Graham post-hip surgery
15
Clinical Findings - Oro-facial
  • Flat malar/ mid-face area
  • Small lower jaw/ micrognathia
  • Posterior-placed tongue
  • Obstructive airway complications
  • Cleft palate, submucous cleft or high arched
    palate
  • Bifid uvula
  • Flat nasal bridge
  • Small, button nose

16
Oro-facial (cont)
  • Epicanthic fold or anteverted nares
  • Dental
  • Enamel hypoplasia
  • Orthodontia issues/ malocclusion
  • Symptoms become less distinctive with age

17
Small Noses!
18

19
Clinical Findings - Other
  • Mitral Valve Prolapse in question, now finding
    prevalence may be no higher than general
    population
  • Pregnancy Issues
  • And more

20
Overview

21
Genetic Info
  • Natural mutations, not environmental mutation
  • 10 of cases are 1st generation, spontaneous
    mutations
  • 3 specific mutation locations found in collagen
    other mutations not yet specified
  • Mutations are usually a premature stop codon in
    the region of the gene encoding the triple
    helical domain of the collagen molecule
  • Type 1- mutation in COL2A1- 75 of Stickler
    syndrome pts have this mutation results in
    problems with vision, hearing, oro-facial and
    musculo-skeletal systems

22
Genetic Info (cont)
  • Type 2- mutation in COL11A1-same system
    involvement as Type 1, but Type 1 and Type 2 have
    visibly different vitreous architecture
    abnormalities-useful in determining diagnosis
  • Type 3- mutation in COL11A2- problems with
    auditory, oro-facial and musculo-skeletal, but
    not eyes (also called OSMED - oto-spondylo-megaep
    iphyseal dysplasia)
  • Type 4- unknown gene mutation - possibly COL5A2
    or others

23
Getting More Personal
  • Our Family Tree

24
Family Symptoms
  • Affected Female- Age 76
  • No visual problems
  • No skeletal problems
  • Clinical findings
  • High, arched palate
  • Treatments/surgeries none

25
Family Symptoms (cont)
  • Affected Female Age 50
  • Vision
  • Moderate myopia
  • Retinal detachment age 16
  • Musculo-skeletal
  • Joint pain/stiffness
  • Osteoarthritis from teen years to current
  • Oro-facial
  • High, arched palate
  • Enamel hypoplasia
  • Treatments/surgeries
  • Scleral buckle and prophylactic laser on retinas
  • Cataract surgeries
  • Bilateral hip replacements
  • Med management

26
Family Symptoms (cont)
  • Affected Male Age 21
  • Vision
  • High myopia
  • Retinal detachment age 14 and age18
  • Musculo-skeletal
  • Genu valgum (Knock-kneed)
  • Oro-facial
  • High arched palate
  • Auditory
  • Severe otitis media
  • Treatments/surgeries
  • Scleral buckle and prophylactic laser on retinas
  • Scleral buckle on lasered retina
  • Knee growth plate stapling
  • Ear tubes

27
Family Symptoms (cont)
  • Affected Male Age 15
  • Vision
  • Mild myopia
  • Musculo-skeletal
  • Femoral head failure/ necrosis
  • Femoral head too large for hip socket
  • Pronated feet
  • Oro-facial
  • Mildly arched palate
  • Treatments/surgeries
  • Prophylactic laser on retinas
  • Femur wedge osteotomy
  • Triple innonimate hip osteotomies
  • Ankle growth plate screws
  • Ankle growth plate removal

28
Diagnostic Criteria
  • Based on findings of long-term NIH study
  • Evaluates molecular data, family history,
    characteristic ocular, auditory and skeletal
    abnormalities
  • 12 points possible on 9 criteria
  • Diagnosis (for Type 1 SS) requires 5 points
    minimum AND presence of cleft palate, ocular
    abnormalities or high frequency sensorineural
    hearing loss

29
Stickler Syndrome Diagnostic Criteria
30
Other Diagnostic Comments
  • Most common cause of retinal detachment in
    children
  • Ocular issues most often addressed retroactively,
    then patient later diagnosed with Stickler
    syndrome as other problems develop
  • Often confused with
  • Wagners syndrome
  • Marshalls syndrome
  • Weissenbacher Zweymuellers syndrome
  • Are there undiagnosed family members?

31
Management of Physical Issues
  • Ocular
  • Ophthalmologic assessment- as often as every 3-6
    months in young children (children will often not
    complain about sight issues until the 2nd eye is
    affected)
  • Normal newborns are hyperopic (1 diopters or
    more), so any degree of myopia is suspect
  • Prophylactic laser photocoagulation or kryo
    treatment on retinas (UK is also doing
    prophylactic scleral buckling)
  • Evaluation under anesthesia especially for
    infants and young children already diagnosed
  • Meds for glaucoma
  • Getting infants and children who have vision
    problems treatment (such as corrective lenses) is
    important for brain development

32
Management Of Physical Issues
  • Auditory
  • Hearing assessment
  • Check for frequent ear infections/use antibiotic
    meds
  • Otolaryngology evaluation- to assess ear and/or
    palate abnormalities, including submucous cleft
    and bifid uvula
  • Evaluate need for hearing aids and speech therapy

33
Management of Physical Issues
  • Oro-facial abnormalities
  • Maxillo-facial and feeding assessment, if
    mid-line clefting
  • Check for feeding problems
  • Speech/ swallow evaluations for all individuals
    with cleft abnormalities
  • Sleep study for children with breathing issues
  • Orthodontics

34
Management of Physical Issues
  • Musculo-skeletal
  • Skeletal evaluation
  • Radiographic skeletal survey in childhood
  • Rheumatology consultation
  • Splints, braces, aids
  • Pain management oral meds, incl.
    anti-inflammatories, joint lubricants/injections
  • Rehabilitation, physical, hydro-therapies
  • Arthroscopy/surgery
  • Appropriate exercise program to strengthen
    muscles around lax joints (no contact sports,
    diving, roller coasters)
  • Pain Clinic evaluation

35
Management of Physical Issues
  • Cardiac
  • Echocardiogram (if reason to suspect mitral valve
    prolapse)
  • Prophylactic antibiotics (if MVP or joint
    replacements)
  • Genetics
  • Prenatal testing- if Stickler syndrome in family,
    consider CVS, amniocentesis or ultrasound
    especially important to determine if cleft issues
    to be dealt with at time of birth

36
Management of Psycho-Social Issues
  • Normal intelligence, but can be challenged by
    vision/ hearing/joint issues at school, work,
    socially
  • Normal lifespan, but impacts major life decisions
    such as college, career, marriage, child-bearing
  • Children and young adults deal with denial
    issues want to appear normal
  • May ignore health issues
  • Problems may be minimized by parents or teachers

37
Management of Psycho-Social Issues (cont)
  • School issues
  • Manage absences due to doctor appts/surgeries and
    hospitalizations
  • Awareness of bullying and teasing
  • Potentially eliminate PE class or modify
    involvement
  • Work with parent on acceptance and communication
  • Encourage parent to educate themselves on IEP
    (Individual Education Plan) and 504 plans
  • Counseling for patients and family members
  • Address sibling issues

38
Resources/Support - U.S.
  • Stickler Involved People
  • 501(c)(3), not-for-profit, all volunteer
    organization
  • Mission - educate and give support to all those
    affected by Stickler syndrome
  • Contact Information
  • www.sticklers.org
  • sip_at_sticklers.org
  • Support Services
  • Annual Conference
  • List serve
  • Quarterly newsletter
  • Educational and support services
  • DVD (copy can be ordered at www.sticklervideo.org)
  • Brochures

39
More Resources
  • Dave Hawleys Stickler Syndrome Page
  • http//members.aol.com/dhawley/stickler.html
  • National Organization for Rare Diseases
  • www.rarediseases.org
  • Free Physicians Guides available (for 9 rare
    diseases so far)
  • On-line summaries for over 1100 rare diseases
  • National Coalition for Health Professional
    Education in Genetics (NCHPEG)
  • www.nchpeg.org
  • National Institute of Child Health and Human
    Development
  • www.nichd.nih.gov

40
SIP goal to educate physicians
  • Increase awareness, especially of primary care
    physicians
  • Why?
  • NIH and Stickler Group Survey Results
  • 1997-NIH initiated a long-term study of Stickler
    syndrome patients
  • 1998 and 2001 Stickler support groups in US, UK,
    the Netherlands and Canada surveyed their members
  • Results (of 330 returned surveys)
  • Age at Diagnosis
  • Infants 9
  • Childhood/ Young Adults - 73
  • Adults over age 30 18
  • Diagnosed By
  • Genetics- 42
  • Ophthalmologists- 38
  • Pediatricians- 8
  • Other Specialties- 12

41
Survey Results
  • Diagnosed individuals childhood symptoms
  • 90- myopia
  • 41- frequent ear infections
  • 24- knock-kneed
  • 41- joint pain by age 9
  • So, although not all near-sighted, knock-kneed
    children with ear infections and/or joint pain
    will have Stickler syndrome
  • A Tipping Point to remember is
  • You would rarely see a child with Stickler
    syndrome who wasnt near sighted, knock-kneed,
    having joint pain and/ or ear infections

42
What do you do?
  • If you see some combination of myopia,
    characteristic facial features, hearing loss,
    skeletal abnormalities, and cleft issues in a 1
    year old, you might suspect Stickler syndrome.
    Then,
  • Refer to a geneticist
  • Give the family internet site information for
    them to review
  • Likely to help with acceptance, if that is an
    issue
  • Allows them to come to the conclusion to seek
    geneticists opinion and/or treatment
  • Multi-disciplinary, TEAM approach with
    specialists, therapists, educators

43
Not So Different
  • Sometimes that zebra and that horse look almost
    the same!
  • You may well see a Stickler syndrome zebra. Will
    you recognize it?

44
References
  • Hughes, Wendy - Stickler Syndrome Support Group
    (UK). Stickler Syndrome - A Child in Your Care.
    11/2000.
  • Hughes, Wendy - Stickler Syndrome Support Group
    (UK). Stickler Syndrome - A Diagnostic Aid for
    Professionals. 11/2004.
  • Francomano, Clair, Wilkin, Douglas J., Liberfarb,
    Ruth M. "Stickler Syndrome." Management of
    Genetic Syndromes. Wiley Liss, Inc. , 2005.
  • Rose, Peter S., Levy, Howard P., Liberfarb, Ruth
    M., Davis, Joie, Szymko-Bennett, Y., Rubin,
    Benjamin I., Tsilou, Ekaterini, Griffith, Andrew
    J., Francomano, Clair A., "Stickler Syndrome
    Clinical Characteristics and Diagnostic
    Criteria." American Journal of Medical Genetics.
    138A (2005). 199-207.
  • Robin, MD, Nathaniel H., Warmen, MD, Matthew L..
    "Stickler Syndrome." geneclinics.org. June 8,
    2000. Gene Clinics. 13 July 2001.
    http//www.geneclinics.org/profiles/stickler/detai
    ls.
  • Rose, BS, MD, Peter S., Levy, MD, PhD, Howard P.,
    et al., "Thoracolumbar Spinal Abnormalities in
    Stickler Syndrome." Spine. 26 (2001). 403-409.
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