Snyder-Robinson syndrome


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Snyder-Robinson syndrome

An X-linked condition (OMIM:309583) characterised by mental retardation; marfanoid habitus; reduced muscle bulk; osteoporosis; kyphoscoliosis; long, thin face; slight facial asymmetry with a prominent lower lip; nasal voice; high, narrow or cleft palate; and long, thin fingers and toes.

Molecular pathology
Defects of SMS, which encodes a protein of the spermidine/spermin synthase family, cause Snyder-Robinson syndrome.