1p35.2 microdeletion syndrome

What is 1p35.2 microdeletion syndrome?

A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.

Other condition names

  • Del(1)(p35.2)
  • Deletion 1p35.2
  • Monosomy 1p35.2

Inheritance type

Not applicable

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

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