raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:231140

Silver-Russell syndrome due to an imprinting defect of 11p15

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Not applicable, Unknown
Age of onset
Antenatal, Neonatal
Status
active

This disease is described under Silver-Russell syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSilver-Russell syndrome due to an imprinting defect of 11p15
frSyndrome de Silver-Russell dû à un défaut d'empreinte de la région 11p15
deSilver-Russell-Syndrom durch Imprintingdefekt von 11p15
esSíndrome de Silver-Russell por defectos de impronta de la región 11p15
itSindrome di Silver-Russell da difetto dell'imprinting di 11p15
nlSyndroom van Silver-Russell door imprintingsdefect van 11p15
ptSíndrome de Silver-Russell por deficiência de impressão 11q15
plZespół Silvera i Russella z powodu defektu imprintingu 11p15
csSilverův-Russellův syndrom způsobený poruchou imprintingu 11p15Silver-Russellův syndrom způsobený poruchou imprintingu 11p15
ukСиндром Сільвера-Рассела, зумовлений дефектом імпринтингу 11р15
zh11p15印迹缺陷所致Silver-Russell综合征
tr11p15 imprinting defekti kaynaklı Silver-Russell sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q87.1NTBTattributedvalidated
ICD-11LD2F.1YNTBTattributedvalidated
MONDO0016480Evalidated
UMLSC5680916Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:813Silver-Russell syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
H19Role in the phenotype ofAssessedHGNC:4713ENSG0000013060010328011p15.5H19 imprinted maternally expressed transcript19675668[PMID]
IGF2Role in the phenotype ofAssessedHGNC:5466ENSG0000016724414747011p15.5insulin like growth factor 233236057[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

28 annotations · validated 2020-11-20
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0100555Asymmetric growth
HP:0002750Delayed skeletal maturation
HP:0000331Short chin
HP:0004322Short stature
HP:0001518Small for gestational age
HP:0000325Triangular face
Frequent (79-30%)
HP:0004209Clinodactyly of the 5th finger
HP:0004325Decreased body weight
HP:0000678Dental crowding
HP:0008872Feeding difficulties in infancy
HP:0000218High palate
HP:0100559Lower limb asymmetry
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0000411Protruding ear
HP:0004482Relative macrocephaly
HP:0100560Upper limb asymmetry
Occasional (29-5%)
HP:0000811Abnormal external genitalia
HP:0001540Diastasis recti
HP:0001943Hypoglycemia
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001998Neonatal hypoglycemia
HP:0001052Nevus flammeus
HP:0010442Polydactyly
HP:0001250Seizure
Very rare (<4-1%)
HP:0001476Delayed closure of the anterior fontanelle
HP:0000975Hyperhidrosis

Run the differential on the 6 obligate / very frequent terms

Annotation source: 20301499[PMID]_30221575[PMID]_24945423[PMID]

7

Sources for this card