X-linked dominant
Caused by changes in OFD1, a gene needed to form cilia. Oral-facial-digital syndrome type 1 is X-linked dominant, and loss-of-function changes are considered lethal in males. Other OFD1 changes can cause conditions in males, such as primary ciliary dyskinesia.
Signs and symptoms
In oral-facial-digital syndrome type 1: a split or lobed tongue with small growths, cleft palate, extra gum bands, distinctive facial features and short, joined or extra fingers and toes. Polycystic kidney disease is associated with this type. Most forms of oral-facial-digital syndrome are also linked to brain abnormalities and some intellectual disability. Males with other OFD1 changes may have primary ciliary dyskinesia.
What a diagnosis changes
Surgery for cleft palate, tongue growths and hand differences, dental care and developmental support. Kidney function and blood pressure monitoring is recommended throughout life. Genetic counselling explains the X-linked inheritance.
Genes analysed
Includes 3 related subtypes ↓Hide subtypes ↑
- Joubert syndrome 10
- orofaciodigital syndrome I
- retinitis pigmentosa 23
