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Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability.Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
Several complications can occur as a result of sCSFLS including decreased cranial pressure, brain herniation, infection, blood pressure problems, transient paralysis, and coma. The primary and most serious complication of a spontaneous cerebrospinal fluid leak is spontaneous intracranial hypotension , where pressure in the brain is severely ...
The increased pressure leads to compression and traction of the cranial nerves, a group of nerves that arise from the brain stem and supply the face and neck. Most commonly, the abducens nerve (sixth nerve) is involved. This nerve supplies the muscle that pulls the eye outward.
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.
Ophthalmoparesis can result from disorders of various parts of the eye and nervous system: Infection around the eye. Ophthalmoplegia is an important finding in orbital cellulitis. [1] The orbit of the eye, including mechanical restrictions of eye movement, as in Graves' disease.
Silent sinus syndrome is a subtype of stage three chronic maxillary atelectasis. The distinguishing factor is that in silent sinus syndrome, there is an absence of sinusitis symptoms. [3] [4] [5] To be clear, chronic maxillary sinusitis may be a primary causitive factor in a significant number of silent sinus syndrome cases, it just may be ...
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
Generally, diseases outlined within the ICD-10 codes F70-F79 within Chapter V: Mental and behavioural disorders should be included in this category. Subcategories This category has the following 7 subcategories, out of 7 total.