X-vázaně recesivní
Caused by loss of function of GPC3 on the X chromosome, which encodes glypican-3, a cell-surface protein that restrains growth. Males are affected; carrier females usually have no or mild features.
Příznaky a projevy
Large size at birth and fast growth, a large tongue, wide-set eyes, a broad nose and a wide mouth. Extra nipples, extra fingers, umbilical hernia and heart, kidney or skeletal differences can also occur. Some people have intellectual disability, while others have normal intelligence. About 1 in 10 develop tumours in early childhood, such as Wilms tumour and hepatoblastoma.
Co se diagnózou změní
Tumour surveillance in early childhood, typically with regular abdominal ultrasound, together with heart, kidney and developmental assessment. Female relatives can have carrier testing, and genetic counselling covers the 1 in 2 chance that a carrier mother's sons are affected.
Analyzované geny
Známé také jako
DGSX; Golabi-Rosen syndrome; Sara Angers syndrome; SDYS; SGB syndrome; SGBS; X-linked dysplasia gigantism syndrome
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- Simpson-Golabi-Behmel syndrome type 1
- Simpson-Golabi-Behmel syndrome type 2
