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