Cousin syndrome
MeSH: C535550ORPHA: 93333
Overview
genetic disorder
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 Cousin syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalyShort neckHypoplastic scapulaeHypoplastic iliaBrachydactylyCongenital hip dislocationElbow flexion contractureHumeroradial synostosisShort femurAbnormality of the joint spaces of the elbowMesomelic leg shorteningLow-set earsAbnormal skull base morphologyShort statureHypertelorismHearing impairmentAbnormal pinna morphologyStenosis of the external auditory canalStrabismusDeeply set eyeBlepharophimosisFrontal bossingLow posterior hairlineRedundant neck skin
Classification & Codes
MeSH Code
C535550Orphanet Code
ORPHA:93333Cousin syndrome
| MeSH | C535550 |
| Orphanet | ORPHA:93333 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO