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15q14 microdeletion syndrome

Disease definition

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

ORPHA:261190

Classification level: Disorder
  • Synonym(s):
    • Del(15)(q14)
    • Monosomy 15q14
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.F
  • OMIM: 616898
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in 4 patients so far.

Clinical description

Dysmorphic features include bitemporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions.

Etiology

Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest deletion being 1.6 Mb in length.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: May 2011

  A summary on this disease is available in Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Polski (2011, pdf)

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.