Coffin-Siris Syndrome

Below you will find more information about Coffin-Siris Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Coffin-Siris Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Coffin-Siris Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Coffin-Siris Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Coffin-Siris syndrome is an uncommon genetic disorder distinguished by absent or underdeveloped toenails and fifth finger, as well as coarse features of the face.

Diagnosis

Presently, diagnosing the syndrome is established on clinical findings. Laboratory tests that confirm the syndrome are not available. For renal, cardiac, and other deformities, neonatal ultrasounds are performed.

Treatment

The therapy or treatment required for children that have the syndrome is dependent on specific symptoms of every individual. A number of children can require surgery for repairing malformations. Special education and speech therapy can also be considered depending on mental retardation degree, motor impairment, and developmental delay.

Symptoms and Signs

The condition may be manifested by difficulty in feeding and recurrent respiratory illnesses during infancy, hypotonia or reduced muscle tone, abnormal joint looseness or laxity, mental retardation, and late bone age. Additionally, affected children and infants usually have short "pinkies" or fifth finger, as well s underdeveloped toes or the absence of nails. Other abnormalities are also evident, such as facial and head area malformations that result to the coarse face appearance.

Causes

The underlying cause of the syndrome is not known. In the majority of cases, the condition is believed to be the result of new genetic changes or mutations appearing randomly with unknown reasons. Autosomal recessive heredity is also said to be a factor.

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