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Alexander-disease

Alexander disease

Alexander disease Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. It is one of a group of disorders, called leukodystrophies (diseases of the white matter of the brain), that involve the
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Li Fraumeni syndrome

li fraumeni syndrome
What is Li-Fraumeni syndrome Li-Fraumeni syndrome is a rare inherited disorder that greatly increases the risk of developing several types

Pallister Killian syndrome

pallister killian mosaic syndrome
Pallister Killian mosaic syndrome Pallister-Killian mosaic syndrome also called Pallister-Killian syndrome or PKS, is a rare sporadic developmental disorder caused

Smith Lemli Opitz syndrome

smith-lemli-opitz-syndrome
Smith Lemli Opitz syndrome Smith-Lemli-Opitz syndrome is a variable genetic disorder (multiple congenital anomaly or intellectual disability syndrome) that affects
Peutz-Jeghers-syndrome

Peutz Jeghers syndrome

Peutz Jeghers syndrome Peutz-Jeghers syndrome is a rare inherited disease that is characterized by the development of noncancerous growths called hamartomatous polyps (benign tumors made up of a mixture of mature cells normally found in
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Omphalocele

omphalocele
What is omphalocele An omphalocele is also called exomphalos, is a birth defect in which an infant's intestine, liver and

Leukodystrophy

leukodystrophy
What is leukodystrophy Leukodystrophies make up a group of rare heritable myelin disorders affecting the white matter of the central