Silver-Russell mat UPD7

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000594170.1
Last updated: 2021-09-08
Annual Review past due read more
Test version history
- 594170.1, last updated: 2021-09-08

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Silver-Russell syndrome 1
Offered by Duzen Laboratories

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from GeneReviews

Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.

Imported from Human Phenotype Ontology (HPO)

Craniopharyngioma
Fetal growth restriction
Micrognathia
Nephroblastoma
Syndactyly
Cafe-au-lait spot
Frontal bossing
Small for gestational age
Congenital posterior urethral valve
Abnormality of the cardiovascular system
Urethral valve
Fasting hypoglycemia
Delayed cranial suture closure
Delayed skeletal maturation
Blue sclerae
Global developmental delay
Hypospadias
Short middle phalanx of the 5th finger
Triangular face
Short distal phalanx of the 5th finger
Abnormality of the ureter
Clinodactyly of the 5th finger
Downturned corners of mouth
Craniofacial disproportion
Hepatocellular carcinoma
Decreased response to growth hormone stimulation test
Testicular seminoma

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Conditions tested

Not provided

Reviews

Clinical resources

Practice guidelines

EuroGenetest, 2011
Clinical utility gene card for: Silver-Russell syndrome

Molecular resources

Consumer resources

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Silver-Russell mat UPD7

Indication

Clinical summary

Imported from GeneReviews

Clinical features