Pfeiffer-Palm-Teller syndrome

Orpha code: 2871OMIM code: 261560

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
2871
Kod OMIM
261560
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

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