Orphanet: Search a disease

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

2q24 microdeletion syndrome

Disease definition

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


Classification level: Disorder
  • Synonym(s):
    • Del(2)(q24)
    • Monosomy 2q24
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: C2931816
  • MeSH: C538316
  • GARD: 3746
  • MedDRA: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.