Hypertelorism with esophageal abnormality and hypospadias
Overview
A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
Symptoms
* Craniofacial abnormalities * Genital abnormalities * Underdeveloped larynx * Difficulty swallowing * Widely spaced eyes
Causes
* Intrinsic esophageal lesions –Gastric acid reflux –Esophageal webs and rings –Radiation-induced inflammation and stricture formation –Trauma –Esophageal perforation –Diverticula –Malignancy –Postsurgical –Foreign body retention * Extrinsic lesions –Anterior cervical osteophyte –Mediastinal mass (e.g., thymoma, teratoma, lymphoma, carotid/aortic aneurysm) –Post-thoracic surgery or anterior cervical discectomy –Enlarged thyroid –Thyroglossal duct cyst * Aberrant motility –Hypertensive lower esophageal sphincter –Nutcracker esophagus –Scleroderma –Achalasia –Diffuse esophageal spasm (DES)
Diagnosis
Home medical testing related to Hypertelorism with esophageal abnormality and hypospadias: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests
Treatment
* Acute mechanical obstructions require urgent endoscopy to relieve the obstruction and prevent potential perforation * Dysphagia with gastroesophageal reflux disease can be minimized with promotility agents or proton pump inhibitors, weight loss, and avoiding offending foods * Chronic mechanical obstruction from webs, rings, and strictures require endoscopic treatment or thoracic surgery; balloon dilation may be considered * Lower esophageal spasm may improve with anticholinergic antispasmodics or the injection of botulinum toxin * Polymyositis: Glucocorticoids. * Myasthenia gravis: Muscarinic agents (pyridostigmine), glucocorticoids * ALS, stroke: Speech therapy evaluation, anticholinergics to prevent saliva aspiration