Genitopatellar syndrome

MeSH: C565255ORPHA: 85201

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 Genitopatellar syndrome, sourced from HPO and Orphanet clinical annotations.

Multicystic kidney dysplasiaCryptorchidismSmall scrotumHydronephrosisMicrocephalyCoarse facial featuresHypertelorismLong philtrumMicrognathiaHearing impairmentLow-set earsProminent nasal bridgeWide noseProminent noseDelayed eruption of teethDelayed speech and language developmentHypoplastic iliaIntellectual disabilitySeizureGlobal developmental delayAgenesis of corpus callosumAtrial septal defectTalipes equinovarusGastroesophageal refluxPulmonary hypoplasiaApneaSparse scalp hairFine hairArthrogryposis multiplex congenitaRadioulnar synostosisHypoplastic ischiaHip contractureShort palmShort statureKnee flexion contracturePatellar aplasiaClitoral hypertrophyFeeding difficulties

Classification & Codes

MeSH Code

C565255

Orphanet Code

ORPHA:85201
Genitopatellar syndrome
MeSHC565255
OrphanetORPHA:85201
Treatments0 drug(s)
Symptoms on record38 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO