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Saethre–Chotzen syndrome ( SCS ), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull ). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Madarosis is not a critical or severe condition. The main symptom and sign of madarosis is the loss of hair from the eyelids, eyebrows, or eyelashes. Many symptoms are from other diseases involved. Swollen, itchy, red, burning eyelids; Loss of hair from other parts of the body, mainly the scalp; Weight gain or palpitation if there is a thyroid ...
Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.
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 ...
Meibomian glands in the lower eyelid imaged under amber light to show vasculature support and the gland structure. Meibomian gland dysfunction (MGD, also meibomitis) is a chronic disease of the meibomian glands, which is commonly characterized by obstruction of the end of the duct that delivers the secretion produced by the glands (called meibum) to the eye surface, which prevents the ...
Dermatochalasis. Dermatochalasis in an elderly woman. Specialty. Medical genetics. Dermatochalasis is a medical condition, defined as an excess of skin in the upper or lower eyelid, also known as " baggy eyes ." [1] It may be either an acquired or a congenital condition. It is generally treated with blepharoplasty .
Jeavons syndrome. Jeavons syndrome is a type of epilepsy. It is one of the most distinctive reflex syndromes of idiopathic generalized epilepsy characterized by the triad of eyelid myoclonia with and without absences, eye-closure-induced seizures, EEG paroxysms, or both, and photosensitivity. Eyelid myoclonia with or without absences is a form ...
Ablepharon macrostomia syndrome ( AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm -derived structures. [ 1] The most prominent abnormality is the ...