Sturge-Weber Syndrome
What is Sturge-Weber Syndrome? Sturge-Weber syndrome (SWS) is a certain type of disorder that comes with …
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Spinal Dysraphism and Myelomeningocele
What is Spinal Dysraphism and Myelomeningocele? Spinal dysraphism refers to birth defects that cause abnormal formation …
Schizencephaly
What is Schizencephaly? Schizencephaly is a rare birth defect of the brain where an abnormal cleft, …
Pelizaeus-Merzbacher Disease
What is Pelizaeus-Merzbacher Disease? Pelizaeus-Merzbacher disease, or PMD, is a condition that affects the central nervous …
Char Syndrome
What is Char Syndrome? Char syndrome is a rare genetic disorder that’s usually passed down through …
Lytic Bone Lesions
What is Lytic Bone Lesions? Bone tumors are, for the most part, not cancerous. The major …
Lesch-Nyhan Syndrome
What is Lesch-Nyhan Syndrome? Lesch Nyhan syndrome is a genetic disorder caused by a lack of …
Hartnup Disease
What is Hartnup Disease? Amino acids are the components that make up protein. There are three …
Succinic Semialdehyde Dehydrogenase Deficiency
What is Succinic Semialdehyde Dehydrogenase Deficiency? Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare genetic disorder …