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Additional clinical features include intrauterine growth restriction, facial dysmorphism (deep-set eyes, prominent forehead, hypoplastic or thin alae nasi, small chin, large low-set ears, border, and downturned mouth), wrinkled and thin skin emphasizing a progeroid appearance, and mild midface hypoplasia.
In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. This may be accompanied by epicanthal folds (extra fold of skin at the inner corner of the eye), ptosis (drooping of the eyelids), proptosis (bulging eyes), strabismus (inward or outward turning of the eyes), nystagmus ...
An epicanthic fold or epicanthus [6] is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. [3] However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.
Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set, close together, and slanted upwards. Eyebrows are heavy with lateral extension.
The most common visual abnormalities associated with 1p36 deletion syndrome include farsightedness (hypermetropia), myopia (nearsightedness), and strabismus (cross-eyes). Less common but still recognized are blepharophimosis , cataracts , ocular albinism , optic atrophy , optic disk pallor , and optic nerve coloboma .
Almost all people with this syndrome have some degree of intellectual disability and facial dysmorphism (round face, deep-set eyes, thin upper lip). Behavioural problems are common. Behavioural problems are common.
The syndrome has a characteristic facial appearance which is similar to that of Kabuki syndrome, including prominent, downward-displaced ears that are underdeveloped, long eyelids, epicanthic folds, a short, broad nose, an open, downturned mouth and a deep groove in the midline of the tongue. [4] Cleft palate occurs in about half of those ...
Facial features include underdevelopment of the cheekbones, deep-set eyes, broad nose and an enlargement at the corners of the mouth (macrostomia). Skeletal deformities include scoliosis and mild epiphyseal changes in the first bones of the fingers (proximal phalanges), but no severe hip dislocation.