Silver Russell syndrome

2008-09-01   Maria Piccione  , Giovanni Corsello  

Dipartimento Materno Infantile, University of Palermo, Italy

Identity

Name

Silver Russell syndrome

Note

The Silver Russell syndrome is characterized by intrauterine and postnatal growth retardation, craniofacial abnormalities, body asymmetry and delayed bone maturation.

Inheritance

Most of patients with Silver Russell syndrome are sporadic, although autosomal recessive, autosomal dominant and X-linked dominant modes of inheritance have all been suggested.

 , Etiology : The Silver Russell syndrome is genetically heterogeneous. Maternal uniparental disomy of chromosome 7 is observed in 7-10% of patients (7p11.2-p13 and 7q31-qter regions). More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15 including the H19 and IGF-II genes; single patients show a maternal duplication of 11p15. Rare chromosomal rearrangements were found in the Silver Russell like syndrome involving the short arm of chromosome 7, the short and long arm chromosome 17 and the long arm chromosome 1.

Omim

180860 , 312780

Mesh

D056730

Orphanet

813 Silver-Russell syndrome

Umls

C0175693

Clinics

Phenotype and clinics

Abnormalities :

  • Growth : intrauterine growth retardation, short stature\/dwarfism, poor postnatal growth below or lower than 2DS at diagnosis, delayed skeletal maturation during infancy.
  • Craniofacial : Preservation of occipito-frontal head circumference, triangular face with prominent forehead, low-set ears, downturned mouth (fig.1).
  • Skeletal findings : delayed closure of anterior fontanella, delayed bone maturation, non progressive skeletal asymmetry, clynodactyly of fifth finger, brachydactyly V fingers, syndactyly and camptodactyly.

    Occasional abnormalities :

  • Cardivascular anomaly : atrial septal defect and pulmonary stenosis.
  • Performance : muscular hypotonia and hypotrophy, rare motor\/neuropsychological delay, feeding difficulties, speech delay.
  • Gastrointestinal anomalies : gastroesophageal reflux disease and esophagitis.
  • Hypoglicemia
  • Genital abnormalities : hypospadia, criptorchidism and inguinal hernia.
  • Skin : café au lait spots.
  • Tumors : testicular cancer , hepatocellular carcinoma, craniopharyngioma and supratentorial juvenile pilocystic astrocytoma.

    • Differential diagnosis

    It is a clinical overlap with other syndromes associated with intrauterine growth retardation and craniofacial abnormalities (Table 1).
    Atlas Image
    Tab.1. Comparison of Silver Russell syndrome, Mulibrey nanism and progeria.

    Evolution

    Multidisciplinary management (pediatric, endocrinologic care etc.) is necessary. Growth hormone does not allow the target height to be reached.

    Prognosis

    Beyond short stature and slender build, long-term prognosis is good.

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    181564382008The genetic aetiology of Silver-Russell syndrome.Abu-Amero S et al
    87419311996Autosomal dominant Russell-Silver syndrome.Al-Fifi S et al
    124000602002Gastrointestinal complications of Russell-Silver syndrome: a pilot study.Anderson J et al
    105648761999Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.Bernard LE et al
    165323912006Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.Bliek J et al
    28535721988Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.Chitayat D et al
    184049732008ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.Eggermann T et al
    186613102008Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome.Fenton E et al
    51167001971The Russell-Silver syndrome without asymmetry.Gareis FJ et al
    160860142005Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.Gicquel C et al
    35750321987Hand radiographs in Russell-Silver syndrome.Herman TE et al
    117483032001Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Hitchins MP et al
    181716372009Hand anomalies in Russell Silver syndrome.Lahiri A et al
    77266061994Cognitive abilities associated with the Silver-Russell syndrome.Lai KY et al
    123847792002Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.Monk D et al
    106311352000Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.Monk D et al
    127547122003A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.Moore MW et al
    59380521966The Silver syndrome: congenital asymmetry, short stature and variations in sexual development. Roentgen features.Moseley JE et al
    118294892002Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.Nakabayashi K et al
    17504900200711p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.Netchine I et al
    90326411997Maternal uniparental disomy 7 in Silver-Russell syndrome.Preece MA et al
    105442281999The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.Price SM et al
    169634842007The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.Schönherr N et al
    12852721992Autosomal recessive Silver-Russell syndrome.Teebi AS et al
    61193701981Testicular cancer in a Russell-Silver dwarf.Weiss GR et al

    Citation

    Maria Piccione ; Giovanni Corsello

    Silver Russell syndrome

    Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

    Online version: http://atlasgeneticsoncology.org/cancer-prone-disease/10149/silver-russell-syndrome