Cornelia de Lange Presentation 2013 DSW 208 Presentation

1. Cornelia De Lange
Syndrome with Cleft Lip
and Palate
By: Amanda Simard, Jenny Durno & Tiffani
Roberts

2. About the Syndrome
Cornelia de Lange Syndrome (CdLS) is a
GENETIC DISORDER!
Causes a range of cognitive, physical and
medical challenges – AFFECTS ALL AGES &
GENDERS
Prevalence: 1 in 10,000 live births
therefore, RARE!

3. Health Challenges
Facial Features: thin eyebrows with high arches, long
eyelashes, short upturned nose, thin downturned lips, lowset ears, cleft palate, mostly short & under-weight, small
head
Most have developmental delay: ranging mild – severe
Health Concerns: Gastro-esophageal Reflux
Disease (GERD), eating disorders
related to cleft lip and palate
Behavioural Concerns: self-injury, compulsive
repetition, autistic-like behaviours.
http://ih.constantcontact.com/fs037/1101464950648/img/350.jp

4. Causes
Genes : NIPBL, SMC1A, SMC3
NIPBL (Common) , SMC1A & SMC3 (Less
Common)
Proteins from genes listed having important
roles regarding development before birth –
regulates structure & organization of
chromosomes
Caused by disrupting gene regulation during
stages of early development but distinct
cause is
UNKNOWN
http://epilepsyu.com/wp-content/uploads/2013/08/genes.jpg

5. Signs and Symptoms
Includes
Excessive body hair
Unusually small head
Hearing loss
Short stature
Digestive tract problems
Seizures
Heart Defects
Eye problems
Skeletal Abnormalities
http://cdlspafundraiser.files.wordpress.com/2009/10/andrew-101.jpg?w=200&h=

6. Detection & Diagnosis
Diagnosis : clinical based observed with
evaluation from physicians; involving med.
history, examinations, lab tests
Not everyone is positive for CdLS  approx.
40% do not.
Detection: blood tests – looking at chromosome
and gene patterns
Prenatally : ultrasound at 18 weeks

7. Treatment & Intervention
Early Intervention  patients with feeding
problems, hearing/vision impairment, heart
disease, urinary abnormalities
Intervention: Psychomotor Delay  computer
programs

helps with visual memory, perception, tactile
stimulation, fine motor
Surgery needed for: cleft lip & palate, nasal
polyps, GERD, pyloric stenosis, intestinal
malrotation/volvulus, undescended testis, lacrimal
duct stenosis, hip dislocations

8. Medications
Drug Therapy : NOT A PROTOCOL
EXCEPT FOR: clinically indicated situations like seizures,
GERD, behavioural symptoms
http://schools.hwdsb.on.ca/glenecho/files/2010/10/Medication.jpg

9. CLEFT LIP & PALATE
Cleft - Split or Separation
Palate - roof of mouth
Typically: tissues form upper lip and palate grow from both sides, then fuse/join together
Babies with Cleft Lip/Palate: fusion did not occur, leaving a gap or cleft
Prevalence: 1 in 700 babies
Most common birth defect affecting the face
Associated with 400+ conditions/genetic syndromes
Bilateral – both sides of face affected
Unilateral – single side of face affected
Common in Asian descent & American Indians
http://www.idahosurgicalarts.com/images/cleft_palate.j

10. CLEFT LIP & PALATE (cont.)
Cause: Not clear but may be inherited
13- 30% of babies have additional birth defects
After birth: examination by
paediatrician/specialist
May require treatment from cosmetic surgery
Needs to be corrected to solve other issues like
hearing/ear infections, speech development
issues, feeding/growth development, teeth
eruption
Women can take preventative steps, as well as
other
birth defects, like avoiding
alcohol/drugs

11. Impact on Family and
Individual
Having a child with CdLS can mean a lot for a family. One
of the defining factors is that the child would look differently
from other children due to their distinct facial features and
especially the cleft lip and palate. For families who are
either in denial or have a hard time accepting their child
having a developmental disability, this can be especially
hard when they think that people are constantly staring.
Girl with CdLS


http://www.chw.edu.au/prof/services/cleft/new_front2.jpg
Boy with Cleft
Lip
http://www.cdlsusa.org/images/headshots/child-with-cdls.jpg

12. Having a child with a developmental delay,
families need to find supports to fit their severity
and seeing how CdLS can range from mild to
severe, families need to find the right supports.
The support being received needs to be
effective but this may be costly and families
may be negatively impacted financially.
http://www.cdlsusa.org/images/headshots/dr-krantz-with-child.jpg

13. Because of the behavioral issues and self-injury
associated with CdLS, this can be stressful on a
family because they would need to constantly
monitor the severity of the SIB so make sure they
are not an immediate danger to themselves. The
SIB affects the individual because they are
creating damage to their bodies and can result in
further complications such as infection or scarring.
http://upload.wikimedia.org/wikipedia/commons/b/b1/Fingers-dermatillomania.jpg

14. Having a cleft palate in general can affect the
individual because it makes it hard for them to eat.
The individual would have to go through multiple
surgeries to correct their lip. This impacts the
family because they have to see their family
member going through these issues and there's
always the chance that the person may not survive
the surgery.
http://4.bp.blogspot.com/mz0hWy3VIvg/Tg4wS9UfP3I/AAAAAAAAAFE/mwMvqeRmp9Y/s1600/Surgical+Room+3.j

15. Services and Supports
Genetic Counseling
Speech therapy or augmentative communication
Pharmacotherapy
Behavior management
Management of GERD through diet and
medication
Possibility of surgery for a G-tube

16. Roles Of A DSW
Create a positive support network
Educate others about the syndrome
Familiarize themselves with the syndrome and
the health concerns surrounding it
Access supports and services for this syndrome
http://www.inspirehealth.ca/content/10466/Personal%20networks-

17. Supports & Services
CdLS Foundation
The CdLS Foundation provides families and support workers
information and services and most of them are free
The CdLS Foundation has a lot of services and support for families
and individuals
What they provide:
- A Toll-Free Number
- Family Gatherings
- Publications
- Multidisciplinary Clinics
- Ask Experts
- Connect with Family
- Family Album

18. CdLS Association
Family support organization
Early diagnosis
Promotes research on the cause
Helps others with similar characteristics
Helps with decision making

19. References
Brown, I. & Percy M. (2011). Developmental disabilities in Ontario (3rd ed.). Toronto , ON: Ontario
Association on
Developmental Disabilities
California Department of Public Health. (2009). Cleft Lip/Cleft Palate. Retrieved from:
http://www.cdph.ca.gov/programs/CBDMP/Documents/MO-CBDMP-Cleft-Lip-CleftPalate-Facts.pdf
Cornelia de Lange Syndrome Foundation, Inc. (2010). What Is CdLS. Retrieved from:
http://www.cdlsusa.org/what-is-cdls/index.htm
Cornelia de Lange Syndrome Foundation, Inc. (2010). Characteristics of CdLS. Retrieved from:
http://www.cdlsusa.org/what-is-cdls/characteristics-of-cdls.htm
Cornelia de Lange Syndrome Foundation, Inc. (2010). Diagnosis of CdLS. Retrieved from:
http://www.cdlsusa.org/what-is-cdls/diagnosis-of-cdls.htm
Genetics Home Reference. (2013, October 21). Cornelia de Lange Syndrome. Retrieved from:
http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome
Mandal, D. A. (n.d.). What is cleft lip and palate? Retrieved from:
http://www.news-medical.net/health/What-is-cleft-lip-and-palate.aspx
Tekin, M. (2013, May 29). Cornelia De Lange Syndrome Treatment & Management. Retrieved from:
http://emedicine.medscape.com/article/942792-treatment