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

ORPHA: 2311402 Treatments Available

Overview

human disease

Available Treatments (2)

DrugFormStatusCountriesLead Time
mecasermin
Orphan Cold Chain
subcutaneous injection, 10 mg/mL solutionFDA Approved, EMA Approved814d
Growth Hormone
Cold Chain
Subcutaneous injection, 5mg, 12mg cartridgesFDA Approved1110d

Clinical Presentation

Signs and symptoms associated with silver-Russell syndrome due to an imprinting defect of 11p15, sourced from HPO and Orphanet clinical annotations.

Triangular faceShort chinSmall for gestational ageDelayed skeletal maturationShort statureAsymmetric growthHigh palateProtruding earDental crowdingClinodactyly of the 5th fingerDecreased body weightRelative macrocephalyFeeding difficulties in infancyPostnatal growth retardationProminent foreheadLower limb asymmetryUpper limb asymmetryAbnormal external genitalia morphologyNevus flammeusIntellectual disabilitySeizureMotor delayDiastasis rectiHypoglycemiaNeonatal hypoglycemiaPolydactylyHyperhidrosisDelayed closure of the anterior fontanelle

Classification & Codes

Orphanet Code

ORPHA:231140
silver-Russell syndrome due to an imprinting defect of 11p15
OrphanetORPHA:231140
Treatments2 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO