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Синдром мікрофтальмії-мікротії-акінезії плода

ORPHA:2547· ICD-10 Q68.8· Microphthalmia-microtia-fetal akinesia syndrome

Визначення(English summary)

A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal, Neonatal