vitalwiki

Синдром послідовності Пєра Робена-олігодактилії

ORPHA:3104· ICD-10 Q87.0· Robin sequence-oligodactyly syndrome

Визначення(English summary)

Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal