Autoszomális domináns
Caused by changes that stop one copy of the SF3B4 gene from working; SF3B4 is part of the machinery that splices gene transcripts.
Tünetek és jelek
A small lower jaw, underdeveloped cheekbones and downslanting eyes, often with cleft palate and conductive hearing loss. The thumbs are malformed or absent, and the forearm bones may be shortened. Breathing and feeding difficulties are common in infancy. The legs or feet can also be involved.
Mit változtat a diagnózis
Newborns may need airway and feeding support. Hearing, palate, jaw and hand problems are treated as needed. Genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Nager acrofacial dysostosis
MONDO:0800483Források: [1][2][3]
