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Синдром Борінга-Опітца

ORPHA:97297· ICD-10 Q87.8· Bohring-Opitz syndrome

Визначення(English summary)

A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Antenatal, Neonatal