Pfeiffer Palm Teller syndrome

Alternate names

PPT syndrome; Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice

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.

NIH genetic and rare disease info

NIH info on Pfeiffer Palm Teller syndrome

Pfeiffer Palm Teller syndrome is a rare disease.

Resources

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Rare diseases - Pfeiffer Palm Teller syndrome
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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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Pfeiffer Palm Teller syndrome
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