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"Macrocephaly," benign familial
- ... Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J ...
- ... size may be from any of the following: Benign familial macrocephaly (family tendency toward large head size) Canavan disease ( ...
- ... the EXT2 gene have been found in a family with seizures-scoliosis-macrocephaly syndrome. In individuals with this condition, seizures typically ...
- ... or skin A larger than normal head size (macrocephaly) Developmental delays , learning disabilities , and/or autism Dark freckles on the penis Thyroid , kidney , or colorectal cancer Uterine or breast cancer (in females only) If you're pregnant and have a family history of PTEN gene changes , you may consider ...
- ... with no history of the disorder in their family.Having one mutated copy of the PTCH1 gene in each cell is enough to cause the features of Gorlin syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and ...
- ... cancer called a medulloblastoma and a type of benign tumor called a fibroma that ... with a prominent forehead; and skeletal abnormalities involving ...
- ... pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature ... with no history of the disorder in their family.Unlike most other autosomal dominant conditions, in which ...
