Carpenter Syndrome

Below you will find more information about Carpenter Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Carpenter 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 Carpenter 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 Carpenter Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Carpenter syndrome is classified as a very rare or uncommon genetic disorder, distinguished through premature closure of skull bones, growth retardation, heart defects, craniofacial abnormalities, and other health disorders. It is usually manifests at/or shortly following birth.

Diagnosis

The syndrome being genetic in nature, an infant has it at birth. Diagnosis is founded on symptoms, such as skull appearance, face, toes, and fingers. There has been no special test developed to corroborate diagnosis.

Treatment

Treatment of the syndrome will depend on a patient's symptoms. Surgery can be required if there is a presence of critical heart defect. Surgery can also be used in correcting craniosynostosis, through separation of the abnormal fused skull in order to allow head growth. This kind of treatment is typically done in different stages that start in infancy. Occupational, speech, and physical therapy also help individuals with the syndrome to reach their highest developmental potential.

Symptoms and Signs

Various symptoms show for patients of this syndrome including an unusually conical head due to craniosynostosis, flat nasal bridge, narrow palate, malformed ears, short or missing toes phalanges, pulmonic stenosis, cardiovascular defects, maldeveloped or small corneas, optic atrophy, growth retardation, low I.Q, and others.

Causes

Carpenter syndrome is inherited in a manner called autosomal recessive, which means that a person has to get two defective gene copies from their parents to develop this syndrome.

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