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Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder .
The suprarenal plexus is formed by branches from the celiac plexus, from the celiac ganglion, and from the phrenic and greater splanchnic nerves, ...
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]
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.
Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]
Children with classical, or severe, RCDP1 have severe developmental disabilities. Most of them achieve early developmental skills, such as smiling, but they will not develop skills expected from a baby older than six months (such as feeding themselves or walking). [4] By contrast, children with non-classical mild RCDP1 often learn to walk and ...
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags ), or further malformation or absence of the ...
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 ...