Renpenning syndrome
MeSH: C537761ORPHA: 3242
Overview
intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males
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 Renpenning syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyIntellectual disabilitySkeletal muscle atrophySevere short statureCachexiaHypospadiasMalar flatteningSmall faceNarrow faceLong faceEpicanthusMandibular prognathiaShort philtrumMacrotiaProminent noseUpslanted palpebral fissureAbnormal rib morphologySprengel anomalyGrowth delayAlopeciaDecreased testicular sizeThin eyebrowRound earNarrow mouthCleft palateSensorineural hearing impairmentStrabismusCataractIris colobomaPectus excavatumDiabetes mellitusAbnormal thumb morphologySeizureJoint stiffnessMacrodontiaAnal atresiaHigh, narrow palateAbnormal hairshaft morphologyClinodactyly of the 5th fingerHigh hypermetropiaBroad columellaHeterotaxy
Classification & Codes
MeSH Code
C537761Orphanet Code
ORPHA:3242Renpenning syndrome
| MeSH | C537761 |
| Orphanet | ORPHA:3242 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO