Caused by changes in the NHS gene on the X chromosome that usually stop it from working. Classic features appear mainly in males, while females who carry a change typically have milder features.
Příznaky a projevy
Males have dense cataracts at birth, often with small corneas,. Dental anomalies and dysmorphic facial features are also typical. About a third have intellectual disability or behavioural differences. Carrier females typically have milder features that vary between individuals.
Co se diagnózou změní
Eye care, dental care and developmental support as needed. Female relatives can be offered carrier testing and eye examination, and genetic counselling explains the chance of passing it on.
Analyzované geny
Známé také jako
cataract dental syndrome; cataract X-linked with Hutchinsonian teeth; Mesiodens cataract syndrome; nance-horan syndrome, X-linked dominant; NHS
