Microglossia
Microglossia is a condition in which an individual has an abnormally small tongue. A lesser degree of this rare symptom may be difficult to diagnose and detect. Microglossia is in fact a very rare malformation.
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Microglossia is a condition in which an individual has an abnormally small tongue. A lesser degree of this rare symptom may be difficult to diagnose and detect. Microglossia is in fact a very rare malformation.
Microphthalmia is a developmental anomaly characterized by abnormal smallness of one or both eyes. During pregnancy, the baby fails to develop correctly causing a severe loss of vision or growth defect surrounding the eye. Vision may vary depending on the severity of the condition. Microphthalmia may be caused by genetics, but certain other risk factors can also contribute to this symptom.
Microtia refers to ears that are underdeveloped and small. It can affect just one ear, or both. In up to 90% of cases it occurs in just one ear. In some cases the feature may cause hearing loss, as it may lead to a closed or absent external ear canal. However microtia can be fixed, and the associated hearing loss fixed. Microtia is a congenital condition, and presents at birth.
It may describe a middle part (the infraorbital and perialar regions) of the face that is underdeveloped, flat or smaller than normal. 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 skeletal system is made up of all of the bones and joints of the body. This includes 270 bones at birth, which reduces to 206 once an individual reaches adulthood as some bones fuse together during this period. The skeletal system has many crucial functions including the protection of crucial body organs, body movement, storing minerals and fats and forming blood cells. Symptoms affecting the skeletal system may be seen with the naked eye. Diagnosing a skeletal related symptom may involve different tests and assessments, both subjective and objective. Symptoms relating to the skeleton may affect the ability of an individual to function and move normally.
A developmental anomaly with absence of one or more ribs. 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 skeletal system is made up of all of the bones and joints of the body. This includes 270 bones at birth, which reduces to 206 once an individual reaches adulthood as some bones fuse together during this period. The skeletal system has many crucial functions including the protection of crucial body organs, body movement, storing minerals and fats and forming blood cells. Symptoms affecting the skeletal system may be seen with the naked eye. Diagnosing a skeletal related symptom may involve different tests and assessments, both subjective and objective. Symptoms relating to the skeleton may affect the ability of an individual to function and move normally.
An exaggeration of emotional effects such as laughing, crying, or yawning beyond what the person naturally feels. Although mood swings may be the result of extreme emotions, they can develop as a result of or be associated with acute injuries or chronic diseases. During a mood swing, an individual may experience a rapid change from feeling happy and joyful to irritable or sad.
A form of developmental delay, and a delay in reaching certain milestones relating to motor development. For example a delay in sitting, crawling, walking. It is usually identified in infancy to early childhood and may be the symptom of a wide range of disorders, some of them genetic.
Movement-based tics affecting discrete muscle groups. Most common contractions of this symptom occur in the mouth, neck, face, shoulders or head. Tics are often repetitive and unexpected; whilst they might seem intentional they are not, making it more difficult for an individual to suppress or subdue this type of movement.
When the muscles suddenly and involuntarily (an affected individual has no control over them) contract or spasm. 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 muscular system contains three muscle types: cardiac, smooth and skeletal. The muscular system affects multiple parts and functions of the body including: movement, balance, stability and posture, circulation, respiration, digestion, urination and childbirth. Symptoms affecting the muscles can not for the most part be seen with the naked eye. Diagnosing a muscle related symptom may involve different tests and assessments, both subjective and objective. Symptoms relating to the muscles may affect their function and tone. They may also affect the structure of the muscles, regardless of how big or small (macro and/or microscopically) this change in the structure might be.