Orphanet: 16q24.3 microdeletion syndrome

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

16q24.3 microdeletion syndrome

Disease definition

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

ORPHA:261250

Classification level: Disorder

Synonym(s):
- Del(16)(q24.3)
- Monosomy 16q24.3
Prevalence: <1 / 1 000 000
Inheritance: Not applicable or Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q93.5
OMIM: -
UMLS: -
MeSH: -
GARD: 10935
MedDRA: -

Summary

Epidemiology

It has been clinically and molecularly characterized in 4 patients.

Clinical description

Facial dysmorphism includes high forehead, large ears, smooth philtrum, pointed chin and wide mouth. Anomalies of the brain and neonatal thrombocytopenia can be observed.

Etiology

This syndrome is caused by an interstitial deletion encompassing 16q24.3. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They vary in size, the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).

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)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)