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4q21 microdeletion syndrome

Disease definition

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

ORPHA:238750

Classification level: Disorder
  • Synonym(s):
    • Del(4)(q21)
    • Monosomy 4q21
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.40
  • OMIM: 613509
  • UMLS: C4304530
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been reported in nine unrelated patients.

Clinical description

The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed.

Etiology

This microdeletion was identified by comparative genomic hybridisation (CGH) microarray. The critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.