Presentation
An asymptomatic bifid epiglottis is nearly pathognomonic, however, some patients present with more severe posterior laryngeal clefts leading to potentially fatal respiratory insufficiency. [orpha.net]
Gynecomastia was present in 31 males, and cryptorchidism was present in 2. Mean menarchal age was 12.6 years (n 36). [jamanetwork.com]
Gastrointestinal
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Constipation
General GI disturbances in 57 patients (35%) included frequent upper GI pain, chronic diarrhea, and constipation; gastroesophageal reflux was diagnosed, based on findings from either upper GI series or endoscopies, in 35 patients. [jamanetwork.com]
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Diarrhea
General GI disturbances in 57 patients (35%) included frequent upper GI pain, chronic diarrhea, and constipation; gastroesophageal reflux was diagnosed, based on findings from either upper GI series or endoscopies, in 35 patients. [jamanetwork.com]
Ears
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Hearing Impairment
Mild-to-profound bilateral sensorineural, predominantly high-frequency, hearing impairment evolved throughout childhood (89%; age range, 2-21 years; mean age at onset, 5 years). [jamanetwork.com]
Treatment
Management and treatment Treatment is symptomatic. Medical imaging should include MRI to assess the hypothalamic hamartoma, X-rays of hands and feet and a full-skeletal survey as well as renal ultrasound. [orpha.net]
At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]
These findings will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment. [jamanetwork.com]
Prognosis
Prognosis Prognosis should be assumed to be excellent until proven otherwise. However, in its most severe forms, panhypopituitarism and severe airway malformations can be lethal; imperforate anus may also be lethal if not recognized. [orpha.net]
These patients have a poor clinical prognosis; 11 of 33 have died (age range, 14-48 years). There was mild to severe elevation in liver transaminase levels as early as age 4 years in 89 (92%) of 97 patients tested. [jamanetwork.com]
Etiology
Etiology PHS is due to mutations of the GLI3 gene (7p13) that encodes a transcription factor activated by the sonic hedgehog pathway. Mutations lead to alterations in gene expression during development. [orpha.net]
Epidemiology
Summary Epidemiology Approximately 100 patients have been reported to date. [orpha.net]
Pathophysiology
Goldstein JFialkow P The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore) 1973;5253- 71PubMedGoogle ScholarCrossref [jamanetwork.com]
Prevention
anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]
Paisey RBCarey CMParkinson MJParkinson CCole MD Alström syndrome: the case for secondary prevention [abstract]. Diabetes Res Clin Pract 2000;50 ((suppl 1)) S202Google ScholarCrossref 5. [jamanetwork.com]