Orphanet: Silver Russell syndrome due to maternal uniparental disomy of chromosome 11

Search for a rare disease

Other search option(s)

Alphabetical list

Suggest an update

(*) 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: *

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

ORPHA:231147

Classification level: Subtype of disorder

Synonym(s):
- UPD(11)mat
Prevalence: <1 / 1 000 000
Inheritance: Not applicable or Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q87.1
ICD-11: LD2F.1Y
OMIM: -
UMLS: C5679841
MeSH: -
GARD: -
MedDRA: -

Summary

This disease is described under Silver-Russell syndrome

Detailed information

General public

Article for general public
English (2014) - Socialstyrelsen
Français (2018) - Tous à l'école
Svenska (2019) - Socialstyrelsen

Guidelines

Clinical practice guidelines
English (2016) - Nat Rev Endocrinol
English (2016) - Eur J Hum Genet
Français (2021) - PNDS

Anesthesia guidelines
Czech (2011) - Orphananesthesia
English (2011) - Orphananesthesia

Disease review articles

Review article
Español (2015, pdf) - CIBERER

Clinical genetics review
English (2019) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet

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

Eurordis directory

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.