Kabuki Syndrome
Main Features
- Distinctive facial features
- long palpebral fissures with eversion of the lateral 1/3 of lower eyelid
- arched and broad eyebrows often with sparsness laterally
- short columella with depressed nasal tip
- large prominent cupped ears
From reference [4]
- developmental delay and intellectual disability
- Post natal growth deficiency
- Skeletal anomalies
- Persistent fetal fingertip pads
Eye Findings
- Everted lower eyelids
- Found in about 1/3
- Strabismus
- Ptosis
- Blue sclerae
- Coloboma
- Marcus Gunn jaw wink
- Peters anomaly
- More Rare
- Optic nerve hypoplasia
- colobomatous microphthalmia
- anophthalmia
Other Findings
- Congenital heart defects
- GU anomalies
- Cleft palate
- Increased susceptibility to infections and autoimmune disorders
- Immune thrombocytopenia
Etiology
- 75% from KMT2D gene mutations (autosomal dominant)
- 8% from KDM6A gene mutations (X-linked dominant)
- rest unknown