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