... onset in the first year of life or congenital macrocephaly) Early development normal or mildly delayed Motor function ... and L-2-hydroxyglutaric aciduria. Some children with congenital ... MDC1A) have macrocephaly. The clinical features and course of these disorders ...

... 8 SD above the mean in affected individuals. Congenital macrocephaly was reported in one individual [ Loveday et al ... of developmental brain disorders including brain growth disorders ... congenital anomalies, and other conditions. Kimberly Foss, LGC is ...

... 0%-4.2% Congenital microcephaly 0%-0.7% Congenital macrocephaly 0%-0.7% Hydramnios 0%-1.4% Neonatal ...

... endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of ...

... macroglossia and hirsutism that can be seen in congenital hypothyroidism may overlap with features of Cantú syndrome. Acromegaly. The macrocephaly, coarse facial features, and tall stature in some ...

... by CMA for developmental delay, intellectual disability, or congenital anomalies: 0.12% vs. 0.2%). Features seen in individuals with this duplication may include hypotonia, macrocephaly, prominent forehead, hypertelorism, tremor, learning or developmental delay, ...

... other brain glioma, Lisch nodules, choroidal abnormalities, neurofibromas, congenital bowing of limbs, pseudarthrosis, sphenoid bone dysplasia PTEN Bannayan-Riley-Ruvalcaba syndrome (see PTEN Hamartoma Tumor Syndrome ) AD Extreme macrocephaly, ↑ risk for cancer & benign skin tumors, hamartomatous polyps ...

... involvement including: cardiac hypertrophy (usually typical hypertrophic ... macrocephaly is typical, and postnatal cerebellar overgrowth can result ...

... callosum dysgenesis; genital anomalies Distal anomalies of limbs; macrocephaly w/protruding ... heart defects Hirschsprung disease or chronic constipation; distinctive ...