It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.This condition is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits the genetic mutation or chromosomal abnormality from one affected parent.Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family. Diagnosis
The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and  hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is caused by a Gcps and a Gli3 gene mutation. It can also be made if the person has a family member or relative with the disease. Possibly, antenatal ultrasound can detect macrocephaly, and a high-resolution ultrasound can detect polydactyly and syndactyly. There are a lot of differential diagnoses, including over 100 syndromes and disorders that can cause polydactyly. However, there are a few diseases with an overlap that is significant. These diseases include: acrocallosal syndrome, carpenter syndrome, and Gorlin syndrome. Management
The main treatment is surgery to fix the abnormalities in the limbs, like syndactyly.
Among them, a person with a hiatal hernia can experience dull pains in the chest, shortness of breath (caused by the hernias effect on the diaphragm), heart palpitations (due to irritation of the vagus nerve), and swallowed food "balling up" and causing discomfort in the lower esophagus until it passes on to the stomach. In addition, hiatal hernias often result in heartburn but may also cause chest pain or pain with eating.In most cases however, a hiatal hernia does not cause any symptoms. The pain and discomfort that a patient experiences is due to the reflux of gastric acid, air, or bile. While there are several causes of acid reflux, it occurs more frequently in the presence of hiatal hernia. In newborns, the presence of Bochdalek hernia can be recognised from symptoms such as difficulty breathing fast respiration, increased heart rate. Causes
The following are potential causes of a hiatal hernia. Increased pressure within the abdomen caused by:
Heavy lifting or bending over
Frequent or hard coughing
Hard sneezing
Violent vomiting
Straining during defecation (i.e., the Valsalva maneuver)Obesity and age-related changes to the diaphragm are also general risk factors. Diagnosis
The diagnosis of a hiatal hernia is typically made through an upper GI series, endoscopy, high resolution manometry, esophageal pH monitoring, and computed tomography (CT). Barium swallow as in upper GI series allows the size, location, stricture, stenosis of oesophagus to be seen. Besides, it can also evaluate the oesophageal movements. Endoscopy can analyse the eosophageal internal surface for erosions, ulcers, and tumours.