Variants
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Silver-Russell syndrome 3

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Description

Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • X-linked recessive inheritance
  • Autosomal dominant (from paternal allele)

VARIANTS

4

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Genes

External Links

  • OMIM

    616489

  • Orphanet
  • HPO
  • Medgen

    C4225307

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