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Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation. [1] [2] Other symptoms include transient hypothyroidism, macular degeneration, and torticollis. [3]
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability , as well as childhood-onset obesity .
The suprarenal plexus is formed by branches from the celiac plexus, from the celiac ganglion, and from the phrenic and greater splanchnic nerves, ...
Adrenal adenomas are benign tumors that start in the cortex of the adrenal gland.They fall into one of two categories: functional or non-secreting. Adenomas that are nonfunctional or have modest levels of hormone secretion may not show any symptoms at all and may remain asymptomatic.
PI3kinase. The pathophysiology of activated PI3K delta syndrome has several aspects. [2] The normal function has P110δ (PI3K) involved in immune system regulation. [9]P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous ...
The renal plexus is a complex network of nerves formed by filaments from the celiac ganglia and plexus, aorticorenal ganglia, lower thoracic splanchnic nerves and first lumbar splanchnic nerve and aortic plexus. [1] The nerves from these sources, fifteen or twenty in number, have a few ganglia developed upon them.
Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability , facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
TBS patients may have the following symptoms: [3] Abnormalities of the external ears (unusually large or small, unusually shaped, sometimes with sensorineural hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers or conductive hearing loss from the external or middle ear), dysplastic ears, lop ear (over-folded ear helix ...