renal dysplasia-limb defects syndrome
MeSH: C537754ORPHA: 3404
Overview
medical condition
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 renal dysplasia-limb defects syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAbnormal penis morphologyRenal hypoplasiaPolycystic kidney dysplasiaNarrow mouthHigh palateThin vermilion borderProminent occiputMicrognathiaLow-set earsAbnormal pinna morphologyShort neckAbnormal rib morphologyShort ribsAbnormal external genitalia morphologyShort sternumThin ribsSingle umbilical arteryOligohydramniosTalipes equinovarusPotter faciesPulmonary hypoplasiaRespiratory distressPneumothoraxRespiratory failureHypoplasia of the radiusFibular aplasiaMesomeliaHumeroradial synostosisOvoid thoracolumbar vertebraeBirth length less than 3rd percentileDepressed nasal bridgeShort humerusAplasia/Hypoplasia of the ulnaClitoral hypertrophyEnlarged labia minoraSevere intrauterine growth retardationPostnatal growth retardationPhocomeliaShort metacarpalLong upper lipAbnormal forearm bone morphologyConvex nasal ridge
Classification & Codes
MeSH Code
C537754Orphanet Code
ORPHA:3404renal dysplasia-limb defects syndrome
| MeSH | C537754 |
| Orphanet | ORPHA:3404 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO