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Синдром Пфайфера-Палма-Теллера

ORPHA:2871· ICD-10 Q87.1· Pfeiffer-Palm-Teller syndrome

Визначення(English summary)

Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal