| SOTOS SYNDROME 1; SOTOS1 | |
| CEREBRAL GIGANTISM | |
|
117550
OMIM = Online Mendelian Inheritance of Men | |
|
821 | |
| Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific | |
| rare (>150 cases) autosomal dominant mutation in the nuclear receptor binding SET domain protein 1 gene(NSD1) | |
| Laboratory findings | D-Glucose normal/dec (serum) Glycine/Valine ratio normal/dec (plasma) |
| Symptoms | atrial septal defect behavior, abnormal or bizarre, confusion cardiac involvement, cardiac defects developmental delay dolichocephaly dysmorphism hyperinsulinism macrocephaly (large calvaria, >2 SD for age) mental retardation Amino acids, plasma behavior, anxiety cardiomegaly cataract CT, brain, abnormalities [-] cutis laxa dermatoglyphic abnormalities downward slanting fissure (antimongoloid slant) EEG abnormalities [-] hernia high arched palate high birthweight (large for gestational age) hyperopia hyperreflexia hypertelorism hypertrichosis hypoglycemia hypotonia infections (severe or recurrent) large hands/feet learning disability malignant tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma)Wilms) MRI, brain, abnormalities [-] nystagmus onset, infancy onset, neonatal pigmentation, skin and sclera prominent forehead renal dysfunction, renal defects seizures strabismus Teeth: premature eruption ventricular septal defect |