hand-foot-genital syndrome
MeSH: C535627ORPHA: 2438
Overview
autosomal dominant human genetic disease characterized by limb malformations (e.g. bilateral shortening of thumbs/big toes) and urogenital defects (e.g. abnormalities of ureters/urethra; incomplete Müllerian fusion in females; hypospadias 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 hand-foot-genital syndrome, sourced from HPO and Orphanet clinical annotations.
Recurrent urinary tract infectionsHypospadiasUreteropelvic junction obstructionVesicoureteral refluxAbnormality of the uterusStrabismusAbnormality of the urethraBicornuate uterusSacral dimplePostaxial hand polydactylyVentricular septal defectClinodactyly of the 5th fingerSynostosis of carpal bonesShortening of all middle phalanges of the fingersAbnormal dermatoglyphicsHallux varusMicrotiaProximal placement of thumbShort thumbShort distal phalanx of fingerShort 1st metacarpalShort first metatarsalShort halluxHypoplastic fifth toenail
Classification & Codes
MeSH Code
C535627Orphanet Code
ORPHA:2438hand-foot-genital syndrome
| MeSH | C535627 |
| Orphanet | ORPHA:2438 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO