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Stickler Syndrome: A Family Story

Stickler Syndrome: A Family Story. Paula Goldenberg, MD, MSW, MSCE 18 th American Stickler Syndrome Conference Denver, Colorado July 12, 2014. Stickler Syndrome Basics What causes Stickler Syndrome? How Stickler Syndrome is passed down in families? How can we modify our genetic risk?

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Stickler Syndrome: A Family Story

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  1. Stickler Syndrome:A Family Story Paula Goldenberg, MD, MSW, MSCE 18th American Stickler Syndrome Conference Denver, Colorado July 12, 2014

  2. Stickler Syndrome Basics • What causes Stickler Syndrome? • How Stickler Syndrome is passed down in families? • How can we modify our genetic risk? • What can we do to be in the best health possible?

  3. Stickler Syndrome • Common (1:7500-1:9000 births) • Hereditary arthro-ophthalmopathy • Hearing loss is common in people with Stickler syndrome • Most common genetic association in patients with Pierre Robin sequence • Can affect many individuals in a family

  4. Stickler SyndromeEye Findings • High Myopia • Retinal tears and detachment • Glaucoma • Cataracts http://epharmapedia.com Snead MP, Eye 2011;1389-1400

  5. Joints • Joint laxity • Tall thin stature • Degenerative Arthropathy • Scoliosis http://www.qt.com.au Snead, MP; J Med Genet 36:353-359

  6. Craniofacial • People with Stickler syndrome can resemble each other as well as their families • U-shaped cleft palate • Bifid uvula • Pierre-Robin Sequence http://ginoyton.com Antunes RB, J Plastic Recon AesthSurg 2012: 1029

  7. Hearing Loss • 80% • Hypermobility • Conductive • Sensorineural • Mixed • Can worsen

  8. Heart • Mitral valve prolapse

  9. Stickler Syndrome Basics • What causes Stickler Syndrome? • How Stickler Syndrome is passed down in families? • How can we modify our genetic risk? • What can we do to be in the best health possible?

  10. What causes Stickler syndrome? • Collagen: the gel, the cushion, and the girders • Compressible, Structural (crosslinking)

  11. Where is collagen? • Joints • Bones • Cornea and vitreous (eye) • Skin • Intestines • Spinal disks • Dentin (teeth) • Muscle • Usually made by fibroblasts

  12. Collagen: Many varieties! • Type I-Type XXVIII! • Each type has different properties and uses • 1,000 identified disease-causing mutations • Different types of collagen mutations can cause • Brittle Bone Disease (osteogenesisimperfecta) • Ehlers-Danlos Syndromes (many types) • Alport Syndrome (kidney failure and hearing loss) • Stickler Syndrome • And many, many others

  13. Collagen 9A1

  14. What does COL9A1 do? • Works with collagen 2 • In hyaline cartilage (articular joints)

  15. Stickler Syndrome Basics • What causes Stickler Syndrome? • How Stickler Syndrome is passed down in families? • How can we modify our genetic risk? • What can we do to be in the best health possible?

  16. Stickler SyndromeFamily Matters

  17. Stickler Syndrome • Majority of patients have a parent with Stickler syndrome • If a patient is the first person with Stickler syndrome in the family we call this a de novo deletion

  18. Chromosomes

  19. Stickler Syndrome Inheritance • Two types • Autosomal Dominant • Autosomal Recessive

  20. Autosomal Dominant InheritanceAffected Parent to Affected Child

  21. Genes in Autosomal Dominant Stickler Syndrome • COL2A1: 80-90% Autosomal Dominant • Membranous vitreous anomaly with mild hearing loss • COL11A1: 10-20% Autosomal Dominant • Beaded vitreous anomaly with significant hearing loss • COL11A2: Rare Autosomal Dominant • “Non-ocular” Stickler Syndrome

  22. Autosomal RecessiveParents are carriers and not affected

  23. Genes in Autosomal Recessive Stickler Syndrome • COL9A1: Very Rare; Autosomal recessive • 3 families • COL9A2: Very Rare; Autosomal recessive • Two children in one family

  24. Stickler Syndrome Basics • What causes Stickler Syndrome? • How Stickler Syndrome is passed down in families? • How can we modify our genetic risk? • What can we do to be in the best health possible?

  25. Genetic Counseling: Low Tech • Autosomal dominant 50% risk with each pregnancy • Autosomal recessive 25% risk with each pregnancy • Level II ultrasound 18-20 weeks: micrognathia • For parents with all types of Stickler Syndrome • Amniocentesis or CVS • If familial mutation(s) known • Donor Egg • Donor Sperm • Adoption

  26. Genetic Counseling: High Tech • If we know the gene mutation in the family

  27. Stickler Syndrome Basics • What causes Stickler Syndrome? • How Stickler Syndrome is passed down in families? • How can we modify our genetic risk? • What can we do to be in the best health possible?

  28. Unfortunately, this is not the answer

  29. Rheumatology Orthopedics Ophthalmology Genetics Clinic Cardiology Craniofacial Audiology

  30. Excellent Care: it takes a village! • Ophthalmology • Orthopedics • Rheumatology • Audiology • Craniofacial Team (Clefts, Pierre Robin) • Oral Maxillofacial Specialists • Cardiology • Genetics • Genetic Testing • Can be a quarterback for the team • Surveillance

  31. The village continued… • Physical Therapy • Occupational Therapy • Physical Medicine and Rehabilitation • Vision Therapy • Hearing Aid Specialist • Social Work • Stickler Involved People • Stickler Syndrome Support Group (UK) • Facebook networks

  32. Many Thanks To • Our patients and families affected by Stickler syndrome • Dr. Ruth Lieberfarb • Dr. David Sweetser • Dr. Joseph Thakuria

  33. http://wendylhughes.blogspot.com/2012_06_01_archive.html

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