Oculocerebrocutaneous Syndrome
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. Presentation These include * Skin lesions ** Hypoplastic or aplastic skin defects ** Pedunculated, hamartomatous or nodular skin appendages * Eye lesions **Cystic microphthalmia * Brain lesions ** Forebrain anomalies *** Agenesis of the corpus callosum *** Enlarged lateral ventricles *** Interhemispheric cysts *** Hydrocephalus *** Polymicrogyria *** Periventricular nodular heterotopia ** Mid-hindbrain malformation *** Giant dysplastic tectum *** Absent cerebellar vermis *** Small cerebellar hemispheres *** Large posterior fossa fluid collections Genetics This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome. Diagnosis Differential diagnosis * Aicardi syndrome * Encephalocraniocutaneous lipomatosis * Focal dermal hypoplasia * Oculo-auriculo-vertebral spectrum Epidemi ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Porencephaly
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere.Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word ''porencephaly'' means 'holes in the brain'. The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while others may be severely d ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
X Chromosome
The X chromosome is one of the two sex-determining chromosomes ( allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying m ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Ocular Rosacea
Ocular rosacea is a manifestation of rosacea that affects the eyes and eyelids. Signs and symptoms generally consist of redness, irritation or burning of the eyes. Affected individuals may also feel that there is something, such as an eyelash, in the eye and frequently have redness of the nose and cheeks as well. Those who have ocular rosacea may be treated with warm compresses, artificial tears and washing the area around the eye with warm water, including the eyelids, to help relieve symptoms. Additionally, oral antibiotics, typically doxycycline, may be prescribed. Some people with ocular rosacea feel that dietary restrictions of caffeine, spicy foods, and alcoholic beverage An alcoholic beverage (also called an alcoholic drink, adult beverage, or a drink) is a drink that contains ethanol, a type of alcohol that acts as a drug and is produced by fermentation of grains, fruits, or other sources of sugar. The c ...s may reduce or eliminate symptoms. Ocular rosacea m ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Oculo-auriculo-vertebral Spectrum
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. It is associated with anomalous development of the first branchial arch and second branchial arch. The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption. It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2. Signs and symptoms Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Typically, the organ will either not be present on one side or will be underdevelop ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Focal Dermal Hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy. Genetics Focal dermal hypoplasia has been associated with PORCN gene mutations on the X chromosome. 90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable. The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. It associated with morning glory anomaly, polymicrogyria, incontinentia pigmenti, oculocerebrocutaneous syndrome, Rothmund-Thomson syndrome and micro ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Encephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face. It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities. This condition is described as sporadic because it occurs in people without a history of the disorder in their family. It was named after Haberland and Perou who first described it. Signs and Symptoms Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are unable to produce and keep fat tissue and have multiple lipomas. Other types of growths, including jaw tumours, may also occur. Approximately two thirds of individuals with Encephalocraniocutaneous lipomatosis have intracranial and/or intraspinal lipomas. They also have an increased risk of developing a form of brain cancer known as a glioma. Other neurological issues that can occur include seizures, s ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treament may also be needed. In order to utilize the girls' eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named after t ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Cerebellar Vermis
The cerebellar vermis (from Latin ''vermis,'' "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior fossa of the cranium. The primary fissure in the vermis curves ventrolaterally to the superior surface of the cerebellum, dividing it into anterior and posterior lobes. Functionally, the vermis is associated with bodily posture and locomotion. The vermis is included within the spinocerebellum and receives somatic sensory input from the head and proximal body parts via ascending spinal pathways. The cerebellum develops in a rostro-caudal manner, with rostral regions in the midline giving rise to the vermis, and caudal regions developing into the cerebellar hemispheres. By 4 months of prenatal development, the vermis becomes fully foliated, while development of the hemispheres lags by 30–60 days. Postnatally, proliferation and organization of the cellular components of the cerebellum continues, with completion of the foliation p ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Microphthalmia
Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present. Presentation Microphthalmia is a congenital disorder in which the globe of the eye is unusually small and structurally disorganized. While the axis of an adult human eye has an average length of about , a diagnosis of microphthalmia generally corresponds to an axial length below in adults. Additionally, the diameter of the cornea is about in affected newborns and in adults with the condition. The presence of a sma ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Tectum
The midbrain or mesencephalon is the forward-most portion of the brainstem and is associated with vision, hearing, motor control, sleep and wakefulness, arousal (alertness), and temperature regulation. The name comes from the Greek ''mesos'', "middle", and ''enkephalos'', "brain". Structure The principal regions of the midbrain are the tectum, the cerebral aqueduct, tegmentum, and the cerebral peduncles. Rostrally the midbrain adjoins the diencephalon (thalamus, hypothalamus, etc.), while caudally it adjoins the hindbrain (pons, medulla and cerebellum). In the rostral direction, the midbrain noticeably splays laterally. Sectioning of the midbrain is usually performed axially, at one of two levels – that of the superior colliculi, or that of the inferior colliculi. One common technique for remembering the structures of the midbrain involves visualizing these cross-sections (especially at the level of the superior colliculi) as the upside-down face of a bear ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Polymicrogyria
Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri ( microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions. The time of onset has yet to be identified; however, it has been found to occur before birth in either the earlier or later stages of brain development. Early stages include impaired proliferation and migration of neuroblasts, while later stages show disordered post-migration development. The symptoms experienced differ depending on what part of the brain is affected. There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as seizures, delayed development or weakened muscles as some of the noted effects. Syndromes Significant technological advances have been made within the past few decades that have allowed more extensive studies to b ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |