Warning Signs Of Carpenter Syndrome

Reduced Height

An individual with Carpenter syndrome may have a reduced height when they reach their adulthood years due to the short stature or incomplete development of their thighs, trunk, and neck. A patient's bones may not grow at the rate they should throughout their childhood and adolescence, which can cause the bones to become stunted or permanently short. It is thought a mutation or deletion in the DNA causes some of a patient's tissues to become growth restricted. An additional contribution to the reduced height of some Carpenter syndrome patients is a deformity that occurs in the hip bone referred to as coxa valga. Genu valgum or a malformation that causes unusually wide-spaced ankles and the abnormal proximity of the knee joints can cause a patient to stand at a shorter height than healthy individuals. Another abnormality that can cause a Carpenter syndrome patient to have a reduced height is referred to as kyphoscoliosis, the irregular curvature of the spine.

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Facial Malformations

It is not unusual for a Carpenter syndrome patient to have dissimilarities between the two sides of their face or apparent facial asymmetry. The differences seen from one side of the face to the other are the result of the abnormal and uneven fusion of the patient's skull bones. Craniofacial abnormalities that may present in Carpenter syndrome include a broad and short facial shape, eye folds in a down slanting direction, low-set ears, underdeveloped lower jaw, a flat nasal bridge, small upper jaw, or malformed ears. A Carpenter syndrome patient may have a high arch in the roof of their mouth or an unusually narrow palate. Eye abnormalities, such as small eyes, clouding of the corneas, improperly developed eyes, ocular nerve degeneration, and other defects, may also be caused by Carpenter syndrome.

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