Beemer
Beemer
Beemer (pronounced: bee-mer) is a term used in the medical field, specifically in the area of genetics. It is associated with a rare genetic disorder known as Beemer-Langer syndrome, also known as Beemer-Ertbruggen syndrome.
Etymology
The term "Beemer" is derived from the name of the scientist, Frits A. Beemer, who, along with his colleague, I. Langer, first described the syndrome in 1983.
Definition
Beemer-Langer syndrome is a rare genetic disorder characterized by the presence of polydactyly, omphalocele, cloverleaf skull, and short limbs. The syndrome is also associated with other abnormalities such as cleft palate, hydrocephalus, and intellectual disability.
Related Terms
- Polydactyly: A condition in which a person is born with more than the usual number of fingers or toes.
- Omphalocele: A birth defect in which an infant's intestine or other abdominal organs are outside of the body because of a hole in the belly button area.
- Cloverleaf skull: A condition in which the skull has a cloverleaf shape due to premature fusion of the cranial sutures.
- Short limbs: A condition characterized by limbs that are shorter than normal for a person's age and sex.
- Cleft palate: A condition in which the roof of the mouth contains an opening into the nose.
- Hydrocephalus: A condition in which there is an accumulation of cerebrospinal fluid within the brain, causing increased pressure inside the skull.
- Intellectual disability: A term used when there are limits to a person's ability to learn at an expected level and function in daily life.
External links
- Medical encyclopedia article on Beemer
- Wikipedia's article - Beemer
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