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[1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. [5]: 1512 Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems [10] and problems with the teeth (dentinogenesis imperfecta). [5]
Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978. [ 1 ] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue ...
It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes: History of bone fracture caused by minimal trauma; Short stature; Blue sclera; Hearing loss [2] [5]
Generally, diseases outlined within the ICD-10 codes H15-H19 within Chapter VII: Diseases of the eye, adnexa should be included in this category. Wikimedia Commons has media related to Disorders of sclera and cornea .
Symptoms of scleritis include: [3] Redness of the sclera and conjunctiva, sometimes changing to a purple hue; Severe ocular pain, which may radiate to the temple or jaw. The pain is often described as deep or boring. Photophobia and tearing; Decrease in visual acuity, possibly leading to blindness; The pain of episcleritis is less severe than ...
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.
The history should be explored for the presence of the diseases associated with episcleritis, and the symptoms they cause, such as rash, arthritis, venereal disease, and recent viral infection. [5] Episcleritis may be differentiated from scleritis by using phenylephrine or neosynephrine eye drops, which causes blanching of the blood vessels in ...
Uveitis (/ ˌ juː v i. aɪ t ɪ s /) is inflammation of the uvea, the pigmented layer of the eye between the inner retina and the outer fibrous layer composed of the sclera and cornea. [1] The uvea consists of the middle layer of pigmented vascular structures of the eye and includes the iris , ciliary body , and choroid .