Froster Huch syndrome

Diaphragmatic defects, limb deficiencies, and ossification defects of skull


Type of disease: Rare conditions

Froster Huch syndrome has been described in several families and is very rare. It is characterized by defects in the diaphragm (the layer inside the body that separates the abdomen from the lung space and is essential in maintaining proper breathing function), underdeveloped lungs, other abdominal defects, defects of the arms and legs and defects of the skull or head. Since this condition has been described in siblings, it appears that it may be inherited in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, each of their children will have a 25% (or 1 in 4) chance of having the disease.

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