A rare disease is regarded as an orphan disease since it impacts only a very small percentage of the world’s population. Most of these rare diseases are supposed to be genetic disorders. They seem to be present during the lifetime of an individual even though symptoms are not visible immediately. As per https://www.raredisease.org.uk, “80% of rare diseases have a genetic component. Often rare diseases are chronic and life-threatening. Rare diseases can be a single gene, multifactorial, chromosomal or non-genetic.”

Stickler Syndrome

Stickler syndrome refers actually to a group of connective tissue disorders. The connective tissue that seems to be distributed in the entire body could be impacting multiple organ systems. Stickler Syndrome symptoms would be varying hugely from one person to another. Some affected people would not be demonstrating all the symptoms of this rare disease. The ears, eyes, joints, and skeleton are usually affected because of this rare condition. The affected people may be having palate abnormalities and distinctive facial features. One important sign of this rare condition is myopia or nearsightedness. In this condition, people affected are able to see objects close to them very clearly but objects that seem to be distant appear blurry and hazy. Myopia could be severe or mild and generally, is not supposed to be progressive. It could be detected shortly after one’s birth and it may not even develop until adulthood or adolescence.

Median Cleft of the Nose

Median cleft of the nose is also, referred to as the median fissure of the nose or bifid nose. It is a rare malformation which is characterized by a condition where the nose is actually divided quite clearly into two parts. There seems to be a huge degree of variability in the condition’s severity and that could range from just a visible groove at the nasal tip to a total clefting of the structural cartilage and bones which results in two separate halves of the nose. This rare condition is often related to midline lip clefting and hypertelorism. The airway generally is sufficient despite that sort of a cosmetic appearance related to the condition. The effective treatment would comprise surgical intervention including reconstruction and repairing of the malformation. Median cleft of the nose is an uncommon congenital disorder. Both females and males are impacted by this condition. It could affect all ethnic groups and racial people. A key risk factor for this disease is a family history and as such, this rare condition could be inherited.

Hallermann-Streiff Syndrome

HSS or Hallermann-Streiff Syndrome is certainly a rare disorder which is chiefly characterized by certain distinctive malformations of the facial region, and the skull, eye abnormalities, sparse hair, degenerative skin transformations especially in the nasal and scalp regions, and dental defects, and even proportionately short stature.

Robinow Syndrome

Robinow syndrome is also, a rare condition that is a hereditary disorder. It impairs proper bone development or development of certain other parts of the body. There are two kinds of Robinow Syndrome which could easily be distinguished because of their distinctive symptoms and signs.

Conclusion

There are many such rare conditions that prove to be interesting and help us to understand these rare occurrences. You must know about these rare conditions to boost your knowledge.

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