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It is the inability or an abnormality in the thought process of an individual, including their ability to process information. It can range from mild impairment to a more severe condition. Cognitive impairment specifically affects an individual’s ability to remember things, to process and remember learned things, and be able to make decisions.
Coloboma is an eye condition that occurs when eye tissue is missing. This might also be defined as a hole or notch in one of the different parts of the eye, the iris or retina, for example. It is a congenital condition that is present at birth. It can occur in one or both eyes. Vision impairment may occur depending on the size, and location of the missing tissue.
It is the presence of excessive silvery blonde to gray lanugo hair on the body of a newborn. It is present at birth, and is usually found all over the body. There is currently no known prevention of this form of excessive hair growth. However it is known that the hairiness related to this symptom tends to be more severe in males than females. It is also known to be a genetic syndrome, and more than likely it is inherited.
Corneal asymmetry is when there is a noticeable difference between the left and right corneas in terms of their size. The exact reasons for this are as yet unknown. Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. The eye is a part of the ocular and vision systems of the body. The ocular system includes the eye and its central vision system (cornea, lens, eye fluids), all of the parts which make vision possible. Symptoms affecting the eyes may be congenital, present at birth, or they may develop later in life. Sometimes surgery may be an option to correct them. Symptoms relating to the eyes may affect their structure and function including their ability to see, other times they may simply affect the shape or appearance of the eye without any impact on vision.
It is when the cornea (the transparent front of the eye), of the eye, is clouded. This reduces the clarity, or clearness of what can be seen. It also changes the aspect of the cornea. Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. The eye is a part of the ocular and vision systems of the body. The ocular system includes the eye and its central vision system (cornea, lens, eye fluids), all of the parts which make vision possible. Symptoms affecting the eyes may be congenital, present at birth, or they may develop later in life. Sometimes surgery may be an option to correct them. Symptoms relating to the eyes may affect their structure and function including their ability to see, other times they may simply affect the shape or appearance of the eye without any impact on vision.
Cranial asymmetry is when the bones of the skull are not symmetrical or even on both sides. It can give the appearance of a flattened side of the skull. It occurs usually on the back of the skull, or on one side. It is something that is considered quite common in newborns, who are born with very soft skull bones (these fuse and harden over the course of their first few years of life). In a newborn this cranial asymmetry can be caused by pressure on the skull bones during delivery. In other newborns it occurs in those who favor one side of the head to sleep on, over another.
It affects the bones of the face and the skull. It refers to when both are asymmetric. They may be malformed or uneven. Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. The skull has several crucial functions: it cradles and protects the brain, supports the face and forms the head. It is a bony structure made up of the mandible and cranium. Symptoms affecting the skull can sometimes be seen with the naked eye, especially if they affect the shape, size and structure of the head and face. Diagnosing a skull related symptom may involve different tests and assessments, both subjective and objective.
When one or both testes are missing from the scrotum and are in the inguinal canal instead. This differs from a retracted teste, which can generally be moved down if necessary. Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. The reproductive system is made up of the organs of the body necessary for the reproductive process. In a female these organs include the vagina, uterus, fallopian tubes, and the ovaries. In a male these organs include the penis, testes, spermatic ducts, sex glands and the scrotum. Symptoms affecting the reproductive system are generally congenital, present at birth, but may develop later. Symptoms relating to the organs of the reproductive system may affect their structure and function including their ability to reproduce, other times they may simply affect the shape or appearance of the organ, without any impact on fertility.
A cupped ear is one where the outer rim of the ear is folded over into the ear. This gives the ear a cup-like shape. It is a congenital ear condition, making it present at birth. This feature can be mild to severe. In the most severe cases, the outer part of the ear is tightly rolled over, it is then also usually accompanied by anomalies in the inner ear which can affect hearing.