Blaichman syndrome

Overview

Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.

Symptoms

* Webbed fifth finger * Opening between trachea and esophagus * Breathing problems * Feeding problems

Causes

Tracheoesophageal fistula and esophageal atresia: Causes and incidence (Professional Guide to Diseases (Eighth Edition)) Tracheoesophageal fistula and esophageal atresia result from failure of the embryonic esophagus and trachea to develop and separate correctly. Respiratory system development begins at about day 26 of gestation. Abnormal development of the septum during this time can lead to tracheoesophageal fistula. The most common abnormality is type C tracheoesophageal fistula with esophageal atresia, in which the upper section of the esophagus terminates in a blind pouch, and the lower section ascends from the stomach and connects with the trachea by a short fistulous tract. In type A atresia, both esophageal segments are blind pouches, and neither is connected to the airway. In type E (or H-type), tracheoesophageal fistula without atresia, the fistula may occur anywhere between the level of the cricoid cartilage and the midesophagus, but is usually higher in the trachea than in the esophagus. Such a fistula may be as small as a pinpoint. In types B and D, the upper portion of the esophagus opens into the trachea; neonates with this anomaly may experience life-threatening aspiration of saliva or food.