Orphanet: Silver Russell syndrome due to a point mutation

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Silver-Russell syndrome due to a point mutation

ORPHA:397590

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Antenatal, Neonatal
ICD-10: Q87.1
ICD-11: LD2F.1Y
OMIM: 616489 618907 618908
UMLS: C5681157
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

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.