Handbook of Abiogenetic Counseling Stickler Affection

 18 June 06:19   Stickler Syndrome

    *COL2A1 gene (cause in 75% of families)

    **Typically accept blazon 1 brittle aberration and a top accident for retinal detachment, accustomed audition or balmy SNHL, and early-onset arthritis.

    *COL11A1

    **Typically accept blazon 2 brittle aberration and added astringent audition loss

    *COL11A2

    **Causes anocular Stickler syn because protein is not bidding in the eye -a.k.a oto-spondylo-megaepiphyseal dysplasia (OSMED).

    *Clinical testing accessible for COL2A1 and COL11A1

    **Tulane University Bloom Sciences Center

    Matrix DNA Affection Class New Orleans, LA

    **email:jhyland@tulane.edu phone: (504) 988-7061 fax: (504) 988-7704

    **co-Contact: Charlene Crain, MBA, BS

    **email:ccrain@tulane.edu phone: (504) 988-7706 fax: (504) 988-7704

    **Methodology: Absolute DNA

    *Research testing may be accessible for COL11A2 and mutations in alien loci

    *Geneclinics

    *Option of prenatal testing exists for fetuses at 50% accident for Stickler affection if a alteration in COL2A1 or COL11A1 has been articular in the afflicted parent

    *molecular testing performed either on sample from chorionic beard sampling (CVS) at about 10-12 weeks evolution or amniocentesis at 16-18 weeks gestation.

    *Alternatively, or in affiliation with atomic abiogenetic testing, ultrasound can be performed at 19-20 weeks evolution to ascertain broken palate,

    *HOWEVER not all individuals with Stickler accept broken aficionado and broken palates is difficult to ascertain on ultrasound

    *Detection somewhat abased on position of the fetus

    *Discuss accommodating acquaintance with Stickler affection and perceived burden

    *Discuss artless husband/partners comfort-level with the diagnosis.

    *Assess whether they are anxious about accepting a adolescent with Stickler syndrome?

    *Assess accommodating abutment systems.

    *Address abeyant animosity of guilt.

    *Assess whether she would like advice about online abutment group

    *Parent and Baby Accumulation (Craniofacial)

    :Contact Tricia Bender for added information

    *Stickler Complex People

    :15 Angeline

    :Augusta, KS 67010

    :www.sticklers.org

    *Stickler Affection Abutment Group

    :PO Box 371

    :Walton-on-Thames

    :Surrey KT12 2YS

    :www.stickler.org.uk

    *GeneClinics web page: www.geneclinics.org, Stickler Syndrome.

    *Stickler Complex Humans web site: http://www.sticklers.org/sip/.

    *Management of Abiogenetic Syndromes. Edited by S.B. Cassidy and J.E. Affiliate 24: Stickler affection by Wilkin, DJ, Liberfarb, RM, and Francomano, CA. Allanson. (2001) Wiley-Liss, Inc.

    *Smiths Apparent Syndromes. Stickler Affection pg 282-285.

    The advice in this outline was endure adapted in 2002.