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[1] [2] Norrie disease manifests with vision impairment either at birth, or within a few weeks of life, following an ocular event like retinal detachment and is progressive through childhood and adolescence. It generally begins with retinal degeneration, which occurs before birth and results in blindness at birth (congenital) or early infancy ...
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity [ 2 ] that was first described by Amin J. Barakat et al. in 1977.
CPEO is a slowly progressing disease. It may begin at any age and progresses over a period of 5–15 years. [1] The first presenting symptom of ptosis is often unnoticed by the patient until the lids droop to the point of producing a visual field defect. Often, patients will tilt the head backwards to adjust for the slowly progressing ptosis of ...
[7] [20] Stargardt disease has no impact on general health and life expectancy is normal. [21] Some patients, usually those with the late-onset form, can maintain excellent visual acuities for extended periods and are therefore able to perform tasks such as reading or driving. [15]
Other diseases have similar characteristics to Treacher Collins syndrome. In the differential diagnosis, one should consider the acrofacial dysostoses. The facial appearance resembles that of Treacher Collins syndrome, but additional limb abnormalities occur in those persons. Examples of these diseases are Nager syndrome and Miller syndrome. [3]
7-Year-Old with Rare Disease — 'Basically Childhood Dementia' — Needs $172,000 Therapy Every 2 Weeks (Exclusive) Cara Lynn Shultz October 11, 2024 at 3:14 PM
ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene.Common symptoms include developmental delay and often light to severe intellectual disability.
A prognosis for Alström syndrome is complicated because it widely varies. Any person that has the syndrome have different set of disorders. Permanent blindness, deafness and type 2 diabetes may occur. Liver and kidney failure can progressively get worse. The life expectancy is usually reduced and the patients rarely live past 50 years old. [10 ...