Silver-Russell syndrome due to a point mutation
ORPHA: 397590
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Silver-Russell syndrome due to a point mutation, sourced from HPO and Orphanet clinical annotations.
Triangular faceMicrognathiaIntrauterine growth retardationSmall for gestational ageClinodactyly of the 5th fingerRelative macrocephalyFeeding difficulties in infancyPostnatal growth retardationProminent foreheadAbnormal scrotum morphologyHypospadiasCleft palateLow-set earsDelayed speech and language developmentSyndactylyMotor delayOligohydramniosAbnormality of the cardiovascular systemShort 5th fingerInguinal herniaCryptorchidismBifid scrotumHypothyroidismCafe-au-lait spotGlobal developmental delayHypoplastic fingernailHypoglycemiaFrontal bossingAsthmaSmall placentaAttention deficit hyperactivity disorderPolydactylyMicrophallusEctrodactylyAsymmetric growthDysmenorrhea
Classification & Codes
Orphanet Code
ORPHA:397590Silver-Russell syndrome due to a point mutation
| Orphanet | ORPHA:397590 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO