Eyebrow duplication-syndactyly syndrome
ORPHA:3172· ICD-10 Q87.8
Definition
A rare syndrome with syndactyly characterized by partial duplication of the eyebrows (mainly in the lateral portions) and syndactyly of the fingers and toes. Additional clinical features may include long eyelashes, hypertrichosis, excessive wrinkling of the periorbital skin, congenital lip fibroma, skin hyperelasticity (on the face and chest) and hypermobility of the interphalangeal joints. There have been no further descriptions in the literature since 1989.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal