Cenani-Lenz syndactyly syndrome
MeSH: C538150ORPHA: 3258
Overview
dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has material basis in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11
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 Cenani-Lenz syndactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Absent fingernailFrontal bossingSynostosis of carpal bonesAbnormal metacarpal morphologyFinger syndactylyOligodactylySynostosis of jointsHypertelorismDownslanted palpebral fissuresToe syndactylyAbsent toenailRadioulnar synostosisHypoplasia of the radiusHypoplasia of the ulnaShort thumbMalar flatteningShort philtrumHearing impairmentProtruding earConvex nasal ridgePtosisCataractProptosisNystagmusEctropionHypodontiaAbnormal dental enamel morphologyAbnormal rib morphologyHypothyroidismLaryngomalaciaFoot oligodactylyScoliosisHigh, narrow palateHip dislocationMicromeliaElbow dislocationShort noseAbnormal form of the vertebral bodiesCrossed fused renal ectopiaAbnormal dermatoglyphicsRenal hypoplasia/aplasia
Classification & Codes
MeSH Code
C538150Orphanet Code
ORPHA:3258Cenani-Lenz syndactyly syndrome
| MeSH | C538150 |
| Orphanet | ORPHA:3258 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO