hypertelorism-hypospadias-polysyndactyly syndrome
MeSH: C538332ORPHA: 2211
Overview
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies
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 hypertelorism-hypospadias-polysyndactyly syndrome, sourced from HPO and Orphanet clinical annotations.
PachygyriaAbnormal penis morphologyEpispadiasHypospadiasShawl scrotumLarge fontanellesBrachycephalyDelayed cranial suture closureHypertelorismPosteriorly rotated earsLow-set earsWide nasal bridgeDepressed nasal ridgePreaxial hand polydactylyFlat occiputFinger syndactylyBifid scrotumBroad foreheadLong philtrumDownslanted palpebral fissuresGlaucomaPtosisProptosisEyelid colobomaBroad hallux phalanxBroad thumbSacral dimpleLissencephalyEncephalocelePolymicrogyriaAbnormality of neuronal migrationAbnormal cortical gyrationAbnormal toenail morphologyExencephaly
Classification & Codes
MeSH Code
C538332Orphanet Code
ORPHA:2211hypertelorism-hypospadias-polysyndactyly syndrome
| MeSH | C538332 |
| Orphanet | ORPHA:2211 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO