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Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay.
Some have a gap or split in the colored part of the eye (iris coloboma). [3] [4] In almost all people with Donnai–Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. Affected individuals may also have other structural abnormalities of the brain.
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 ...
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.
The ICD-10 Procedure Coding System (ICD-10-PCS) is a US system of medical classification used for procedural coding.The Centers for Medicare and Medicaid Services, the agency responsible for maintaining the inpatient procedure code set in the U.S., contracted with 3M Health Information Systems in 1995 to design and then develop a procedure classification system to replace Volume 3 of ICD-9-CM.
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 ...
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 ...
The olfactory bulb is usually rudimentary on the side involved in the malformation. The tear duct, nasal bone, nasal cavity, vomer (the small thin bone separating the left and right nasal passages), maxillary sinus, ethmoidal sinuses, and another nasal structure known as the cribriform plate cells are often missing on this side as well.