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It is when the nasal root (the top of the nose, where the nasal bones meet the frontal bone) is positioned further forward than what would be expected for the age of the individual being assessed. A prominent nasal bridge is measured separately from the width of the nose and a nose that is no wider than usual may still be identified as having a prominent nasal bridge.
It is an eye condition where one or both of the eyeballs protrude forward more than they should. This gives an affected individual the appearance of having bulging eyes which appear more prominently in the face. It is also commonly referred to as Exophthalmos. In some cases there may be a very small risk of the condition causing a compressed optic nerve which can affect sight if not treated quickly. However this is rare. One of the leading causes of protruding eyes is Graves Disease. It can also be one of the features of a rare disease.
It is an ear that protrudes or sticks out from the head more than 2cm. It does not lead to any problems with the functioning of the ear, and hearing is normal. It is usually caused by an underdeveloped antihelical fold (a part of the outer ear) which in turn causes the outer part of the ear, the helix, to stick out or protrude. Surgery may be performed to correct the ears.
Psychomotor deterioration is characterized as a loss of previously present mental and motor abilities. This symptom can cause noticeable slowing of emotional and physical reactions which include facial expressions, gesture, posture, speech and more.
When the upper eyelid is 3mm or lower than usual and covers the iris or part of the pupil. This creates what may also be referred to as a drooping eyelid. 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 visual 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.
Pulmonic or pulmonary stenosis is a heart condition which affects the pulmonary valve. This valve can be found between the right ventricle of the heart and the pulmonary artery. Pulmonic stenosis occurs when the pulmonary valve is either too narrow, too small or sometimes too stiff. This then affects the movement of blood from the ventricle (lower right chamber of the heart) to the pulmonary arteries and in turn to the lungs. The narrower the valve is, the more serious the symptoms of the condition are. The condition may be mild to severe and possibly life-threatening in some cases. It may be corrected with surgery in more severe cases.
Recurrent infections is an increased susceptibility to infections. These can be complex and severe persistent infections that could indicate an issue with the immune system. It is important to remember that most children with recurrent infections do have a normal immunity.
It is defined as more than 3 acute episodes of an ear infection within 6 months or more than 4 acute episodes in 12 months. Symptoms of recurrent ear infections include blockage of the ear, hearing loss, issues with balance, ear pain, headaches, fever, and sleepiness.
When an individual experiences recurrent or regular viral infections. Recurrent viral infections is also defined by a susceptibility to viral infections, meaning they are more easily contracted. 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 immune system is made up of a very complex network of cells and proteins which defend and protect the body against infection. Essentially the immune system is able to remember each and every germ it has defeated before, so should that same germ attack again the body is ready to respond quickly. Symptoms which affect the immune system may impact on its ability to fight infections, and trigger other medical and health conditions as a result. This can lead to a compromised immune system, recurrent infections and an impact on other parts, systems and functions of the body.