Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

2q24 microdeletion syndrome

Orpha number ORPHA1617
Synonym(s) Del(2)(q24)
Monosomy 2q24
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Neonatal
  • Q93.5
  • C2931816
  • C538316
MedDRA -


Deletion of 2q24,i.e. the loss of a small but specific region of the long arm of chromosome 2 forms a clinically recognizable syndrome. Twenty-three cases are known from the literature. Several symptoms are commonly seen in patients with chromosome aberrations, such as low birth weight, growth retardation, mental retardation, and low and malformed ears. However, the eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and the congenital heart defects are more specific features, and are especially important in recognizing the clinical phenotype.

Expert reviewer(s)

  • Saskia MAAS

(*) Required fields.

Attention: 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
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.