What are the features of the condition? • Facial features: Large forehead, relative macrocephaly (large head), narrowing at the sides of the forehead, down-slanting eyes, ptosis (droopy eyelid), depressed nasal bridge, rotated ears. • Heart: Pulmonic stenosis (narrowing of the artery going from the heart to the lungs), atrial septal defects (holes in the upper chambers of the heart), ventricular septal defects (holes in the lower chambers of the heart), hypertrophic cardiomyopathy (enlarged heart muscle) • Skin and hair: Dry, thickened (hyperkeratotic), or scaly (ichythyotic), eczema (extreme dryness of skin and itchiness); sparse, curly, wooly or brittle hair; eyelashes and eyebrows may be absent or sparse. • Eye findings: wide-spaced eyes (hypertelorism), strabismus (eyes turning in/out), nystagmus (jittery eyes), near-sightedness, small optic (eye) nerves. These may result in decreased vision and acuity • Feeding/ Gastrointestinal (GI) problems: Difficulty feeding, failure to thrive, reflux, vomiting, oral aversion; intestine malrotation, hernia, and constipation. • Growth: May have normal birth weight and length, but they may drop to below the 5 percentile in infancy. Head remains on the growth curve (relative macrocephaly). Some may have growth hormone deficiency. • Neurologic findings: Hypotonia (low muscle tone), seizures, abnormal EEG, hydrocephalus (fluid on the brain), other brain changes; cognitive impairment (ranging from mild to severe).
Posted on: Sat, 13 Jul 2013 18:53:03 +0000
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