Clinical manifestation

Skin changes: one or capillary hemangi-omas or nevus flammeus lesions on forehead, neck nape, and/or back; cafe au lait spots; keloid formation; hypertrichosis; ingrown finger- or toenails. Systemic changes: growth retardation; delayed bone age; mental retardation; craniofacial dysmorphism (including hypertelorism, broad nasal bridge, and "beak-shaped" nose); abnormally broad thumbs and great toes; breathing and swallowing difficulties; malformations of the heart, kidneys, urogenital system, and/or skeletal system

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