Autozomálně dominantní
Caused by loss of one working copy of GLI3, a transcription factor in the hedgehog signalling pathway. It can be inherited from an affected parent; the share of new (de novo) cases is not known.
Příznaky a projevy
Extra digits, typically on the thumb side of the feet and the little-finger side of the hands, with webbing between fingers or toes. A large head and widely spaced eyes with a broad forehead are common. Less often there is developmental delay, intellectual disability or seizures, which are more likely with large deletions that include neighbouring genes.
Co se diagnózou změní
Hand and foot surgery when needed, with head size and developmental monitoring in childhood. Children of an affected person have a 1 in 2 chance of inheriting the condition, so genetic counselling and family testing are offered.
Analyzované geny
Známé také jako
GCPS; GLI3-related Greig cephalopolysyndactyly spectrum; Greig cephalosyndactyly syndrome; Greig syndrome; Greig's syndrome; polysyndactyly with peculiar skull shape
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- Greig cephalopolysyndactyly-contiguous gene syndrome
