Handbook of Genetic Counseling/Russell Silver Syndrome

Russell Silver Syndrome Introduction 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 History Thorough pregnancy history History of maternal hypertension Teratogenic exposures Intrauterine infections Obtain Family History Birth weights and heights of parents and siblings Genetics 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 Features 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 gasticsimilar to gastric August 2022 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 Diagnosis 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 Diagnosis 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 Treatment 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 Issues 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? Resources 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 References 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 Notes The information in this outline was last updated in 2002.