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m-Power® Rare Pediatric Disease Database
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Pallister-Hall Syndrome

CAVE complex, congenital hypothalamic hamartoblastoma syndrome
Pallister-Hall syndrome is a very rare genetic disorder characterized by multiple congenital anomalies, which means there are many defects present at birth. Pallister-Hall syndrome is best known by the presence of abnormal fingers and toes, malformations in various parts of the breathing system and a tumor in the hypothalamus (a part of the brain). There is a very wide range of severity of signs ...

Pallister-Killian Syndrome

Isochromosome 12p Mosaic, Tetrasomy 12p, Pallister-Killian Mosaic syndrome, Teschler-Nicola and Kill
Pallister-Killian syndrome is a rare genetic disorder caused by structural changes in chromosome 12. Individuals with this syndrome may have characteristic facial features, growth problems and are usually short, fail to reach developmental milestones on time and often have learning problems. They may also have seizures, problems with breathing and defects of the heart. The muscles and bones can a...

Pancreatitis

The pancreas is a gland that is part of the digestive system. The pancreas makes and secretes digestive enzymes into the small intestine and releases insulin and glucagon, two hormones that help regulate blood sugar levels. This gland is the key to breaking down food in our bodies. Pancreatitis occurs when the pancreas becomes inflamed. This inflammation can damage the pancreas to a point where ...

Pantothenate Kinase-Associated Neurodegeneration

Neuroaxonal Dystrophy, Late Infantile; Neurodeneration with Brain Iron Accumulation; Hallervorden-Sp
Pantothenate kinase-associated neurodegeneration (PANK) is a rare, occasionally inherited, genetic disorder that is characterized by progressive brain degeneration and neurological deficits that begin in late childhood. Iron deposits in the brain are a unique feature of this disease. ...

Paraneoplastic Limbic Encephalitis

Paraneoplastic encephalomyelitis, Paraneoplastic encephlomyeloneuritis, Anti-hu paraneoplastic encep
Children with paraneoplastic limbic encephalitis have memory loss, personality changes and seizures as a result of inflammation in the brain (any inflammation of the brain is known as encephalitis). The inflammation is caused by a tumor, though the tumor is usually not located in the brain....
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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All