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1q44 microdeletion syndrome

Disease definition

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

ORPHA:238769

Classification level: Disorder
  • Synonym(s):
    • Del(1)(q44)
    • Monosomy 1q44
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.10
  • OMIM: -
  • UMLS: C4304540
  • MeSH: -
  • GARD: 10943
  • MedDRA: -

Summary

Epidemiology

It has been reported in four unrelated patients.

Clinical description

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

Etiology

This microdeletion was identified by array CGH (comparative genomic hybridization).

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

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010) Japanese (2010, pdf)

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.