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Ears that are lower set on the face than normal, and rotated backwards. The upper insertion of the ear to the scalp is below an imaginary line which passes through the inner part of the eyes. The axis of the ear should be parallel to the face line. In posteriorly rotated the larger part of the ear creates a backward angle with this parallel line.
Macrocephaly is defined as a larger than average head size. This means a measurement that is 2 standard deviations above the average, or larger than the 98 percentile based on an infant’s age and gender. Often a head measuring larger than average may not be cause for concern. Other times it may be due to exaggerated brain growth or it may indicate the presence of fluid or water on the brain, both of which would require further medical investigation. Macrocephaly may also be a symptom of a genetic syndrome.
Macroglossia refers to a tongue that appears longer and wider. There are not currently standard measurements to objectively measure this. However an increased size of a tongue will usually lead it to protrude, making its large size obvious. An abnormally large tongue is rare, and occurs mainly in children. It may impact on an affected individual’s ability to speak, eat and swallow depending on its size. In some cases surgery is an option to reduce the size of the tongue.
They are ears that either appear to be larger than normal, or which have been measured as larger than two standard deviations above the average size. They are measured according to their length, and those that appear or measure longer than the mean and median ear measurements are considered to be large ears.
Malabsorption is a difficulty with digesting and absorbing nutrients from food, or the inability to digest and absorb certain foods: proteins, fats, starches, vitamins and minerals. The malabsorption only occurs in the intestines, but can be due to alterations in different parts of the digestive system. Common causes of malabsorption include cystic fibrosis, lactose intolerance and celiac disease, and can include pancreatitis, biliary atresia, or parasites such as giardia or hookworm, as well as rarer causes such as Whipple’s disease. Symptoms of malabsorption may include bloating, gas, diarrhea, unusual bowel movements, or failure to grow in infants and children.
It is when the malar or zygomatic bone is underdeveloped. Also known as the cheekbone it may have a flat appearance or appear 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.
It is essentially a larger lower jaw than normal, which also makes the chin protrude and stick out more. It occurs during the development of the facial features and skull, in vitro. It is often referred to as an underbite. In some instances surgery may be an option to correct it. It can sometimes cause problems with secondary or permanent teeth coming in, and orthodontic treatment or surgery might be necessary to correct crooked teeth.
A lack of facial expression often with staring eyes and a slightly open mouth. Development of mask-like facies can be due to the weakness of facial muscles. In children this symptom may present with less facial movements and they may appear less animated than usual.
Synonyms: microcephalism, microcephalia HPO: 0000252 What is Microcephaly? Microcephaly occurs when issues with the growth and development of the brain lead to the development of a much smaller head than the average. It is defined as any head measuring 2 standard deviations below the standard measurement. Microcephaly, or a smaller head than the average, may be caused by exposure of the developing fetus to toxic chemicals including alcohol through the mother. Genetic syndromes, serious infections and severe malnutrition affecting the developing fetus may also cause microcephaly.