Orphanet: 2q31.1 microdeletion syndrome

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2q31.1 microdeletion syndrome

Disease definition

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

ORPHA:251014

Classification level: Disorder

Synonym(s):
- Del(2)(q31.1)
- Monosomy 2q31.1
Prevalence: Unknown
Inheritance: Not applicable or Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q93.5
ICD-11: LD44.20
OMIM: -
UMLS: C4274647
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

It has been reported in 20 patients.

Clinical description

Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.

Etiology

This microdeletion was identified by comparative genomic hybridization (CGH) microarray and its size is variable. The critical region encompasses the HOXD genes, haploinsufficiency of which results in the skeletal phenotype.

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

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

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