Recognizing early indicators for timely intervention.
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A broad skull is one that has a wider width. This may change the shape of the head and face, and make them seem wider also. In some cases a broader skull may simply be a cosmetic difference, in others, it may suggest a rare disease. Symptoms may affect multiple parts of the body. Understanding […]
A broad thumb is wider than the standard measurements for a thumb, taking into account the age and other factors of the individual being measured. 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, […]
A broad toe (non-hallux digit) refers to a toe with increased width but not increased length (increased girth). This may be difficult to measure if the rest of the toes (hallux digit) are short. The abnormal broad toe should be specified. Symptoms may affect multiple parts of the body. Understanding which part of the body […]
It means an individual is more susceptible to bruising. Bruising is a discoloration of the skin, caused when blood reaches the skin tissue from ruptured or broken blood vessels after a trauma. Someone who is more susceptible to bruising may bruise frequently without any known causes or significant trauma, they may bruise more severely to […]
A nose with an increased globular shape, most notably involving the lower third of the nose. It may also be defined by an increased size and shape of the tip of the nose, both in terms of width and height. If only the width of the tip of the nose is larger, this is defined […]
Named for the French word for milk coffee, a single cafe-au-lait spot or light brown birthmark, may not suggest any particular syndrome or problem with an individual. However multiple cafe-au-lait spots may be indicative of a specific genetic syndrome or rare disease. Symptoms may affect multiple parts of the body. Understanding which part of the […]
Cardiomyopathy is a myocardial (the muscle of the heart) abnormality. It affects the structure and function of the heart muscle, which is identified as abnormal. It is diagnosed when there is no evidence of coronary artery disease, hypertension, valvular disease, or congenital heart disease as a cause of it. It is a stand-alone health condition […]
Defined as a very unique high-pitched cry, that resembles the sound of a kitten crying. It is identified in infants but tends to disappear with age. It is mainly associated with Cri du Chat syndrome, however, other conditions, genetic or not, may have this characteristic. The reasons for the cry include: laryngeal hypoplasia, floppy epiglottis, […]
Cataracts are a clouding of the lens of the eye. This clouding has the effect of reducing vision in the affected eye. Individuals with cataracts report having blurred or altered vision, colors appear faded, and seeing at night is more difficult. Cataracts can be caused by trauma and injury, occur as a result of ageing […]