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"Pfeiffer-Palm-Teller syndrome"

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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.
Full title
Pfeiffer-Palm-Teller syndrome
Short title
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Synonyms
Orpha number
2871
Category
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Subcategory
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Name in a foreign language
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Prevalence
Inheritance
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Start period
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ICD 10
Q87.1
OMIM
261560
UMLS
C1849929
GARD
4305
MEDDRA
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CONTENT INFORMATION

Textual description

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Etiology

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Forecast

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Differential diagnosis

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Treatment

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Diagnostic methods

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Antenatal diagnosis

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Epidemiology

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Genetic counseling

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Therapy

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Clinical research

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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version (XML data version).

ADDITIONAL INFORMATION

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