Radioulnar synostosis-developmental delay-hypotonia syndrome

What is Radioulnar synostosis-developmental delay-hypotonia syndrome?

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).

Other condition names

  • Der Kaloustian-McIntosh-Silver syndrome

Inheritance type

Unknown

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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