19q13.11 microdeletion syndrome

What is 19q13.11 microdeletion syndrome?

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.

Other condition names

  • Del(19)(q13.11)
  • Monosomy 19q13.11

Inheritance type

Not applicable, Unknown


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.