Pfeiffer Palm Teller syndrome


Pfeiffer-Palm-Teller syndrome: A rare disorder characterized by facial peculiarities, defective tooth enamel and progressive joint stiffness.


* Amimic facies * Cupped ears * High-pitched voice * Narrow space between eyelids * Epicanthal folds * Lack of facial expression * Increased muscle tone * Underdeveloped tooth enamel * Short stature * Progressive joint stiffness * Congenital aortic stenosis


Acute (2 weeks) * Allergic rhinitis * Irritants: Tobacco smoke, occupational * GERD * Chronic sinusitis * Endocrine: Puberty, menopause, hypothyroidism * Foreign body * Aging * Vocal cord problems: Polyps, nodules (“singer's nodules”), neoplasm (primary or metastatic), papilloma (infants and children), corditis (Reinke's edema or edema of vocal cords), vocal cord paralysis * Malignancy: Laryngeal, esophageal, lung, and head and neck (e.g., tonsillar, tongue) cancers * Iatrogenic: Medication side effect (e.g., pioglitazone, aerosolized steroids), postsurgical recurrent laryngeal nerve damage with vocal cord paralysis, radiation therapy * Neurologic: Multiple sclerosis, amyotrophic lateral sclerosis, Parkinson's disease, muscular dystrophy * Less common etiologies (“zebras”) include hemorrhage into vocal folds, psychogenic (laryngeal conversion disorders), rheumatoid arthritis, sarcoidosis, and amyloidosis


* Evaluate airway, breathing, and circulation * Trauma/obstruction: Cricothyrotomy or tracheostomy may be necessary to establish an airway * Infections: Symptomatic measures (e.g., hydration, cough suppression, decongestants), antibiotics, voice rest, surgery for abscess * Vocal abuse: Voice rest (whispering is not voice rest); if speaking is absolutely necessary, oral steroids may be used; voice therapy may be necessary in chronic voice abuse to correct faulty vocal habits * GERD: H2 blockers or proton pump inhibitors, diet modification * Allergic rhinitis/chronic sinusitis: Intranasal steroids and/or antihistamines (e.g., loratadine) * Irritants: smoking cessation, protective clothing or masks * Masses usually require surgical intervention * Endocrine, neurologic, and rheumatologic etiologies should be treated appropriately