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Coffin-Siris Syndrome

Coffin-Siris Syndrome 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.

Coffin-Siris Syndrome 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.

Coffin-Siris Syndrome 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.

Coffin-Siris Syndrome 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.

Coffin-Siris Syndrome 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.

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