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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.
A broad thumb is one that is wider than the standard measurements for a thumb, taking into account 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, including a rare disease or genetic syndrome. Limbs refer to the arms and legs of the body. They also include the hands and feet connected to the main limbs. Parts of the limbs include the fingers and toes, known as digits. The limbs are an essential part of many different functions of the body, including movement, feeding and other necessary daily skills. Symptoms and features affecting the development and functioning of the limbs may also impact on these activities as well. Generally, symptoms affecting the limbs may be seen with the naked eye. Although diagnosing a limb related symptom may involve different tests and assessments, both subjective and objective.
A toe (non hallux digit) with an 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 toe should be specified.
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. Someone who is more susceptible to bruising may bruise frequently without any known causes or significant trauma, they may bruise more severely to trauma or injury. Bruising, for example, is common in active children. But if a child seems more susceptible to bruising, than their peers or even siblings, then a medical practitioner should be consulted as there may be an underlying genetic or medical cause for this.
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 as a broad nasal tip and not a bulbous or fat nose.
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.
It 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 by that definition.
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. The reasons for the cry include: laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, as well as damage or dysfunction relating to the central nervous system.
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, colours appear faded and seeing at night is more difficult. Cataracts can be caused by trauma and injury, occur as a result of ageing or be a feature of a genetic syndrome. In some cases they can be removed with surgery.