Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, " PTEN " mutations such as Cowden disease, neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome ( cerebral gigantism ), Weaver syndrome, Simpson-Golabi-Behmel syndrome ( bulldog syndrome ), and macrocephaly-capillary malformation ( M-CMTC ) syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, ( also known as Basal Cell Nevus Syndrome ) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies ( brain white matter degeneration ) such as Alexander disease, Canavan disease, and megalencephalic leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria.
42.
Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, " PTEN " mutations such as Cowden disease, neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome ( cerebral gigantism ), Weaver syndrome, Simpson-Golabi-Behmel syndrome ( bulldog syndrome ), and macrocephaly-capillary malformation ( M-CMTC ) syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, ( also known as Basal Cell Nevus Syndrome ) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies ( brain white matter degeneration ) such as Alexander disease, Canavan disease, and megalencephalic leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria.
43.
Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, " PTEN " mutations such as Cowden disease, neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome ( cerebral gigantism ), Weaver syndrome, Simpson-Golabi-Behmel syndrome ( bulldog syndrome ), and macrocephaly-capillary malformation ( M-CMTC ) syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, ( also known as Basal Cell Nevus Syndrome ) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies ( brain white matter degeneration ) such as Alexander disease, Canavan disease, and megalencephalic leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria.
