Handbook of Genetic Counseling/Treacher Collins

Treacher Collins Contracting Greet and welcome family What are your questions and concerns for genetics? Overview Agenda Medical/Developmental/Family Hx updates Discuss genetic contributions to Treacher Collins Personnel from other specialties will be in to talk with you Questions Intake Basic Info Age (yr & month) Race/sex Reason for referral Medical History Since your last visit, have you had any: Surgeries? Illnesses? Hospitalizations? Health concerns? New medications? Treatment History What have you been doing/I see you have been doing ____________ How has this been working? Developmental History School_________________ Grade____________ Services: PT_________OT__________ Speech___________ Any special education classes? Early Intervention? Any private evaluations? How would you say __ is functioning developmentally? On tract? What areas are lacking? Activities What does ___ enjoy doing? Does he get to interact with peers? Family History Update New births? New medical problems (psychological or medical) Impressions: (discuss diagnosis, thoughts) Psychosocial Assessment What are things like at home? Who lives at home? Are you thinking of having more children? How are you (parents) dealing with this diagnosis? What resources have you found helpful? Would you like more resources? Do you (parents) find time for yourselves? Who lives in the area to help you? Who takes care of ___ when you need a break? How are your financial resources? Are you having any trouble paying for medical care? What do you need that you don't have? What services do you need that aren't covered by your insurance? Treacher Collins Syndrome Mode of Inheritance: Autosomal Dominant Chromosome Location: 5q32-q33.1 Molecular genetics: Defective gene: treacle Over 50% of case thought to be due to de novo mutations Variable Expression Incidence Clinical Features Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw (micrognathia) Extra large mouth Defect in the lower eyelid (coloboma) Scalp hair extends onto cheeks Cleft palate Diagnosis The child usually will show normal intelligence Diagnosis usually made on features including: Abnormal eye shape (palpebral fissure, slant) A flat or hypoplastic malar region (cheekbones) Facial clefts Small jaw (micrognathia or hypoplastic mandible) Low-set ears Ear malformation (unusual shape to the ears) Abnormal ear canal Conductive hearing loss Defects in the eye (coloboma that extends into the lower lid) Decreased eyelashes on the lower eyelid Management & Treatment Screening for hearing loss Intervention to allow better scholastic performance Plastic surgery for small chin, cleft palate, and other defects Complications Feeding difficulty Speaking difficulty Communication problems Vision problems Cosmetic appearance can cause other people to think the problem is worse than it is Prognosis Children with Treacher-Collins grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school. Testing DNA Diagnostic Lab Johns Hopkins Hospital CMSC 1004 600 N. Wolfe St. Baltimore, MD 21287 Contact: Barbara Karczeski, MS email: bkarczes@jhmi.edu phone: (410) 955-0483 fax: (410) 955-0484 + Gene: TCOF1 Test: Direct mutation analysis by DNA sequencing CPT Codes: 83891 x 1 83898 x 26 83904 x 52 83909 x 52 83912 x 1 Sensitivity: 78-93% Turnaround Time: 5 weeks Cost: $2630 per individual blood sample (for mutation identification) Please call for prenatal and targeted mutation prices. Special Considerations: N/A Genes & Chromosomes CellsàChromosomesàGenes Chromosome location: 5 AD inheritance 50% chance of passing gene one 40-50% of mutations are "de novo" Resources Treacher Collins Foundation P.O. Box 683 Norwich, Vermont 05055 1-800-823-2055 www.treachercollinsfnd.org Treacher Collins Family Support Group (UK) http://www.treachercollins.net Treacher Collins Connection http://www.tcconnection.org/ Conclusions Review session/diagnosis Answer additional questions Give resource info & contact info Notes The information in this outline was last updated in June 2003.