Orphanet: 16p13.11 microdeletion syndrome

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16p13.11 microdeletion syndrome

Disease definition

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.

ORPHA:261236

Classification level: Disorder

Synonym(s):
- Del(16)(p13.11)
- Monosomy 16p13.11
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Not applicable
Age of onset: Infancy, Neonatal
ICD-10: Q93.5
ICD-11: LD44.G1
OMIM: -
UMLS: C4304596
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

It has been clinically and molecularly characterized in fewer than 15 patients.

Clinical description

Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed.

Etiology

This syndrome is caused by an interstitial deletion encompassing 16p13.11. The deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). The underlying mechanism is non-allelic homologous recombination (NAHR).

Genetic counseling

Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. Two genes within the deleted region, NDE1 (nudE nuclear distribution gene E homolog 1) and NTAN1 (N-terminal asparagine amidase) may contribute to the neuro-cognitive phenotype.

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

Detailed information

General public

Article for general public
English (2018, pdf) - Unique
Français (2018, pdf) - Unique
Nederlands (2018, pdf) - Unique

Genetic Testing

Guidance for genetic testing
English (2013) - Eur J Hum Genet

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