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Синдром радіоульнарного синостозу-затримки розвитку-гіпотонії

ORPHA:3270· ICD-10 Q87.8· Radioulnar synostosis-developmental delay-hypotonia syndrome

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Neonatal