geleophysic dysplasia
MeSH: C537677ORPHA: 2623
Overview
disease
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 geleophysic dysplasia, sourced from HPO and Orphanet clinical annotations.
Short statureThin upper lip vermilionRound faceLong philtrumConductive hearing impairmentAnteverted naresThickened skinBrachydactylyLimitation of joint mobilityIntrauterine growth retardationPolyhydramniosShort footAsthmaDelayed skeletal maturationShort long boneShort noseShort palmElevated pulmonary artery pressureAirway obstructionShort fetal femur lengthPhalangeal cone-shaped epiphysesValvular pulmonary stenosisJoint contractureIncreased size of nasopharyngeal adenoidsRecurrent ear infectionsHypertelorismAstigmatismHypermetropiaMyopiaHip dysplasiaLaryngomalaciaLaryngeal stenosisAortic valve stenosisMitral regurgitationMitral stenosisRestrictive ventilatory defectRespiratory insufficiencyHepatomegalyTracheal stenosisTracheomalaciaObstructive sleep apneaAbnormal pulmonary interstitial morphologyAtrioventricular canal defectConstrictive median neuropathyTip-toe gaitGlaucomaHypothyroidism
Classification & Codes
MeSH Code
C537677Orphanet Code
ORPHA:2623geleophysic dysplasia
| MeSH | C537677 |
| Orphanet | ORPHA:2623 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO