Pfeiffer-Palm-Teller syndrome

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

2871

OMIM code

261560

ICD10 code

Q87.1

ICD11 code

*Soruce