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ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3] Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections. [4]
Girl with epicanthal folds A diagram showing a complete cleft lip and palate. Unevenly positioned eyes that may be crossed or wide-set (hypertelorism) [5] Vision problems due to abnormal facial anatomy, which causes mechanical disturbances of the extraocular muscles, resulting in strabismus (crossed eyes) [3]
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.
Epicanthic fold; Drooping of the lower lip; Feeding difficulties; Hypotonia of the face; Ataxia; Hyperopia; High palate; Widespread developmental delays; Gastroesophageal reflux; Widespread hypotonia; Decreased sense of pain; Joint hypermobility; Long face; Constantly open mouth; Prognathism (pointy chin) High occurrence of respiratory tract ...
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 (jerking movement of the eyes) and refractive visual errors. The nose may be small, wide, and upturned.
Skin folds or skinfolds are areas of skin that are naturally folded. Many skin folds are distinct, heritable anatomical features, and may be used for identification of animal species, while others are non-specific and may be produced either by individual development of an organism or by arbitrary application of force to skin, either by the actions of the muscles of the body or by external ...
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
People with 17q12 microdeletions have a characteristic facial phenotype, albeit a subtle one not usually obvious in daily life. Macrocephaly is common, along with high arched eyebrows, flattening of the malar region, and epicanthic folds. [4] Pathological short stature is possible, and a characteristic "short and stocky" body shape occurs in ...