Borjeson-Forssman-Lehmann syndrome
MeSH: C536575ORPHA: 127
Overview
genetic condition in humans
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 Borjeson-Forssman-Lehmann syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityCryptorchidismSmall scrotumHypogonadismCoarse facial featuresGynecomastiaTapered fingerIntellectual disabilityHypotoniaBroad footShort toeCamptodactyly of toeTruncal obesitySparse hairDecreased testicular sizeHypoplasia of penisLarge earlobeProminent supraorbital ridgesDeeply set eyePtosisThick eyebrowBlepharophimosisFeeding difficulties in infancyOrofacial cleftMicrocephalyMacrocephalyHearing impairmentCataractNystagmusSeizureSkeletal muscle atrophyAbnormal hip bone morphologyShort staturePeripheral neuropathy
Classification & Codes
MeSH Code
C536575Orphanet Code
ORPHA:127Borjeson-Forssman-Lehmann syndrome
| MeSH | C536575 |
| Orphanet | ORPHA:127 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO