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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