Pfeiffer-Palm-Teller syndrome

Definition

Orphanet

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.

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Symptoms

Medical Term Other Names Description
Hypoplasia of dental enamel Defective enamel matrix, Enamel hypoplasia, Dysplasia of tooth enamel, Thin dental enamel, Thin tooth enamel [more] Developmental hypoplasia of the dental enamel.
Epicanthus Epicanthic folds, Prominent eye folds, Palpebronasal fold, Plica palpebronasalis, Epicanthal folds, Eye folds [more] A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Cupped ear Capuchin ears, Simple, cup-shaped ears, Cup-shaped ears [more] Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
High pitched voice An abnormal increase in the pitch (frequency) of the voice.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Joint stiffness Stiff joint Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Narrow palpebral fissure Small opening between the eyelids, Decreased size of palpebral fissure, Narrow eyelid opening, Small palpebral fissures [more] Reduction in the vertical distance between the upper and lower eyelids.

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