Conditions / Syndrome
Kabuki syndrome
info · Syndrome · ICD-10: Q89.81
A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
Signs and symptoms
- Focal impaired awareness seizure
- Renal insufficiency
- Short nose
- Type II pneumocyte hyperplasia
- Lobar holoprosencephaly
- Finger clinodactyly
- Large earlobe
- Downslanted palpebral fissures
- Midface retrusion
- Bilateral renal hypoplasia
Also known as: KMS; Kabuki make up syndrome; Niikawa-Kuroki syndrome