Handbook of Genetic Counseling/Russell Silver Syndrome

Russell Silver Syndrome

IntroductionEdit

  • Introductions
  • What do you understand about why you are coming to genetics?
  • What specific questions would you like to have answered today?
  • Outline what will happen in session:
    • Take medical and family history
    • Doctor will perform physical exam
    • Discussion and answer further questions

Obtain Medical HistoryEdit

  • Thorough pregnancy history
  • History of maternal hypertension
  • Teratogenic exposures
  • Intrauterine infections

Obtain Family HistoryEdit

  • Birth weights and heights of parents and siblings

GeneticsEdit

  • Etiology is widely variable
    • 10% of patients have maternal UPD of chromosome 7
    • autosomal dominant and autosomal recessive forms have also been seen
    • some evidence for AD gene located on long arm of chromosome 17

Clinical FeaturesEdit

  • Growth and Feeding
    • IUGR with weight less than 3SD below mean for gestational age
    • Birth length also diminished
    • Normal head circumference
    • Usually difficult to feed
    • GERD and delayed gastic empting are prevelent GI disorders
    • Normal growth velocity
    • Remain small into adulthood
    • Most do not have growth hormone deficiency
  • Development and Behavior
    • Normal IQ
    • Early gross motor delay
    • Mild hypotonia
    • Many patients have learning disabilities
  • Craniofacial
    • Dental anomalies common including microdontia
    • Micrognathia is common
      • Can cause secondary cleft palate
  • Musculoskeletal
    • Limb length asymmetry
      • No cancer related to asymmetry has been reported
  • Genitourinary
    • Cryptorchidisim
    • Hypospadias
    • Occasional renal anomalies

DiagnosisEdit

  • Minimal diagnostic criteria includes
    • IUGR
    • Postnatal growth retardation
    • Normal head circumference
    • Triangular face
    • Fifth finger clinodactyly
    • Normal psychomotor development
  • Supportive criteria
    • Short arm length
    • Limb length asymmetry
    • Cryptorchidism
    • Hypotonia
    • Normal intelligence
  • Diagnostic Testing
    • Microsatellite analysis of chromosome 7

Differential DiagnosisEdit

  • Any condition that can include IUGR
    • Many chromosomal disorders
    • Deletion distal arm chromosome 15
      • MR, microcephaly, non triangular face
    • Chromosome breakage syndromes
      • Fanconi anemia, Nijmegen immunodeficiency syndrome, and Bloom syndrome
      • Tend to have microcephaly
    • Fetal Alcohol syndrome
    • X-linked short stature with skin pigmentation
    • 3-M syndrome
      • skeletal changes, no triangular face

Surveillance and TreatmentEdit

  • growth hormone for those with deficiency
  • early intervention for learning disabilities
  • evaluation and treatment limb asymmetry depending on severity
    • lift in shoe during growth
    • bone lengthening when growth is finished
    • epiphysiodesis

Psychosocial IssuesEdit

  • How have you been dealing with this?
  • How would having this diagnosis change care?
  • What other ways will having this diagnosis be beneficial?
  • Have you had any trouble with insurance?
  • Are you considering having other children?
  • Have you had all your questions answered?

ResourcesEdit

  • Association for Children with Russell-Silver Syndrome, Inc.
22 Hoyt St.
Madison, NJ 07940
Phone: (201) 377-4531
Fax: (201) 822-2715
  • Russell-Silver Support Group (MAGIC Foundation)
1327 N Harlem Ave.
Oak Park, IL 60302
(313) 586-8038
(800) 3-MAGIC-3
email: slantana@awol.com
website: http://www.nettap.com/~magic/
  • National Organization for Rare Disorders, Inc. (NORD)
P.O. Box 8923
New Fairfield, CT 06812-8923
(203) 746-6481
TDD: (203) 746-6481
Email: orphan@nord-rdb.com

ReferencesEdit

  • Saal, HM. "Chapter 20: Russell-Silver Syndrome." Management of Genetic Syndromes. Edited by Suzanne B. Cassidy and Judith E. Allanson. 2001.
  • Geneclinics: Russell-Silver Syndrome

NotesEdit

The information in this outline was last updated in 2002.

Last modified on 14 November 2006, at 14:57