ORPHA:231147

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

Synonyms: UPD(11)mat

This disease is described under Silver-Russell syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	UPD(11)mat
fr	Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11	UPD(11) maternelle · UPD(11)mat
de	Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11	= en
es	Síndrome de Silver-Russell por disomía uniparental materna del cromosoma 11	= en
it	Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 11	= en
nl	Syndroom van Silver-Russell als gevolg van maternale uniparentale disomie van chromosoom 11	= en
pt	Síndrome de Silver-Russell por dissomia uniparental materna do cromossoma 11
pl	Zespół Silvera i Russella z powodu matczynej jednorodzicielskiej disomii chromosomu 11	= en
cs	Silverův-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 11	UPD(11)mat · Silver-Russellův syndrom způsobený maternální uniparentální disomií chromozomu 11
uk	Синдром Сільвера-Рассела, зумовлений материнською однобатьківською дисомією хромосоми 11	= en
zh	母源11号染色体单亲二倍体所致Silver-Russell综合征	母源性UPD(11)
tr	Kromozom 11'in maternal uniparental dizomisine bağlı Silver-Russell sendromu	UPD (11)mat

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	attributed	validated
MONDO	0016482	E		validated
UMLS	C5679841	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:813Silver-Russell syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases

No children.

0 direct

Orphanet records no gene directly on this code.

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Europe	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

20 annotations · validated 2020-11-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0004209	Clinodactyly of the 5th finger
HP:0002007	Frontal bossing
HP:0001518	Small for gestational age
HP:0000325	Triangular face
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0000924	Abnormality of the skeletal system
HP:0100555	Asymmetric growth
HP:0000175	Cleft palate
HP:0002194	Delayed gross motor development
HP:0003241	External genital hypoplasia
HP:0000324	Facial asymmetry
HP:0008872	Feeding difficulties in infancy
HP:0030884	Gastrojejunal tube feeding in infancy
HP:0001263	Global developmental delay
HP:0000975	Hyperhidrosis
HP:0001943	Hypoglycemia
HP:0001511	Intrauterine growth retardation
HP:0100559	Lower limb asymmetry
HP:0001622	Premature birth
HP:0005484	Secondary microcephaly

Annotation source: 27468965[PMID]_18474587[PMID]