Johnson–Munson syndrome

MeSH: C535881ORPHA: 1112

Overview

rare syndrome

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 Johnson–Munson syndrome, sourced from HPO and Orphanet clinical annotations.

Split footHemivertebraeAplasia/Hypoplasia of the phalanges of the handAplasia/Hypoplasia of the phalanges of the toesAbnormal female external genitalia morphologyAsymmetry of the thoraxOligohydramniosPatent ductus arteriosusToe syndactylyAnonychiaPulmonary hypoplasiaAbnormal pelvic girdle bone morphologyElbow dislocationVaginal fistulaAbnormal metacarpal morphologyFinger syndactylyRenal hypoplasia/aplasiaPersistent cloaca

Classification & Codes

MeSH Code

C535881

Orphanet Code

ORPHA:1112
Johnson–Munson syndrome
MeSHC535881
OrphanetORPHA:1112
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO