Glossary for Encephaloceles

• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
• Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
• Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• Brain conditions: Medical conditions that affect the brain
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
• Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
• Del(1) (q32-q42): A very rare chromosomal disorder where a portion of the long arm (q32-q42) of chromosome one is missing. The patient died within a week of birth in the reported case.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Developmental problems: Physical or mental development difficulty.
• Facial feature symptoms: Different facial features as symptoms
• Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
• Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
• Kniest-like dysplasia lethal: A lethal syndrome characterized primarily by severe skeletal abnormalities.
• Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Limb-body wall complex: A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities .
• Meningocele: A condition which is characterized by a protrusion of the meninges of the brain or spinal cord through a defect in the spinal cord
• Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• Microcephaly: Small head circumference
• Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
• Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes.
• Olanzapine - Teratogenic Agent: There is evidence to indicate that exposure to Olanzapine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Paralysis symptoms: Loss of body control and/or feeling.
• Phocomelia - thrombocytopenia - encephalocele - urogenital malformation: An early congenital condition that is characterized by multiple congenital anomalies. The severity and range of abnormalities may vary amongst patients.
• Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
• Scalp defects - postaxial polydactyly: A very rare syndrome characterized mainly by scalp defects and extra fingers and toes.
• Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Vision changes: Any change in vision or sight.

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