Autozomálně recesivní
Caused by changes in both copies of the ALX3 gene, which encodes a transcription factor that guides development of the front of the face. It is a form of frontonasal dysplasia.
Příznaky a projevy
Widely spaced eyes, a broad nasal bridge and columella, a split nasal tip, widely separated slit-like nostrils and a long philtrum, with a midline notch in the upper lip. Less often there are midline dermoid cysts and upper eyelid drooping (ptosis).
Co se diagnózou změní
Assessment and, where wanted, reconstructive surgery by a craniofacial team. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Analyzované geny
Známé také jako
ALX3-related frontonasal dysplasia; FND1; frontonasal dysplasia 1; frontonasal dysplasia type 1; isolated median cleft face syndrome; isolated median cleft syndrome
