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Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies.
Saddle nose is a condition associated with nasal trauma, congenital syphilis, relapsing polychondritis, granulomatosis with polyangiitis, cocaine abuse, and leprosy, among other conditions. [1] The most common cause is nasal trauma. It is characterized by a loss of height of the nose, because of the collapse of the nasal bridge. The depressed ...
Nasal bridge is the bony part of the nose, overlying the nasal bones, above the part in blue labeled "Cartilage of Septum". The bridge is between the eyes, and just below them. The lower half of the nose is below the bridge. The nasal bridge is the upper, bony part of the nose, which overlies the nasal bones.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...
10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. [1] It is usually a de novo mutation.Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism ...
Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); The nose can be upturned and short with a low nasal bridge; and large ears that are abnormally rotated toward the back of the head.
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Nasal glial heterotopia refers to congenital malformations of displaced normal, mature glial tissue, which are no longer in continuity with an intracranial component. This is distinctly different from an encephalocele , which is a herniation of brain tissue and/or leptomeninges , that develops through a defect in the skull, where there is a ...