16p13.11 microdeletion syndrome
ORPHA:261236· ICD-10 Q93.5
Definition
A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, epilepsy, neuropsychiatric and behavioral problems, microcephaly, short stature, dysmorphic features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and congenital heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal