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


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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